tfa

Ensembl ID:

ENSDARG00000016771

ZFIN ID:

ZDB-GENE-980526-35

Description:

transferrin-a [Source:RefSeq peptide;Acc:NP_001015057]

Human Orthologues:

LTF, TF

Human Descriptions:

lactotransferrin [Source:HGNC Symbol;Acc:6720]

transferrin [Source:HGNC Symbol;Acc:11740]

Mouse Orthologues:

1300017J02Rik, Ltf, RP24-421P3.2, Trf

Mouse Descriptions:

lactotransferrin Gene [Source:MGI Symbol;Acc:MGI:96837]

RIKEN cDNA 1300017J02 gene Gene [Source:MGI Symbol;Acc:MGI:1919025]

signal recognition particle receptor subunit beta [Source:RefSeq peptide;Acc:NP_033301]

transferrin Gene [Source:MGI Symbol;Acc:MGI:98821]

Alleles

There are 6 alleles of this gene:

Mutation Details

Allele Name:

sa32879

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

G > A

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 2 (position 16590088)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	17114895
GRCz11	2	16783485

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

CAACTATATAATACATTTTGGATATGCTAAAATGTTTATTATGCTTTTTT[G/A]TGTTCTCCAGCTGTGTCAGAATTCTTCTCGAGCAGTTGTGTCCCTGGTGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa19720

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

T > C

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 2 (position 16589940)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	17115043
GRCz11	2	16783633

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

GCAGCTGCTCACACAACGAGAAGTACTTCGGTGATGACGGAGCCTTCCAG[T/C]ATGAGCCACACTAATACAATCCCTTATATAAGTATACACCAAGTTCAATT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa12059

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

T > A

Consequence:

Nonsense

Genomic Location (Zv9):

Chromosome 2 (position 16587983)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	17117000
GRCz11	2	16785590

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

AGAGAGCCTGCCCGCACTGTCATTGCTCGCACCGATACTGATTTACAATA[T/A]GTTTATGATGTCCTGAAGCAGATTCCGGTATGCCCTTACAGTGTCACATA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa32878

Current Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

We currently estimate that this allele will be available during 2018.

Mutation:

A > G

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 2 (position 16585907)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	17119076
GRCz11	2	16787666

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

AGAATTGACATTTTTGATGAAACCTAACATTTTATTCACTACTCTTTTGC[A/C]GAAAGCTGCTCTAGTGGTTCAGGAGGTAAATATTACTATAATTATTTGGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa44526

Current Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

We currently estimate that this allele will be available during 2018.

Mutation:

A > C

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 2 (position 16585907)

Other Location(s):

Assembly	Chromosome	Position
GRCz11	2	16787666

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

AGAATTGACATTTTTGATGAAACCTAACATTTTATTCACTACTCTTTTGC[A/C]GAAAGCTGCTCTAGTGGTTCAGGAGGTAAATATTACTATAATTATTTGGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa15651

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

A > T

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 2 (position 16581925)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	17123058
GRCz11	2	16791648

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

TATATGTCTTACAAATAAAGTTTTAAATCCCATCTCTTATCATATGTTTC[A/T]GAGCAAAAATAATGACCTTTTCACCTCCAAAGATGGGAAAAATCTCCTTT

Associated Phenotype:

Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

• AIDS progression: Genome-wide association study implicates PARD3B-based AIDS restriction. (View Study)
• Alcohol consumption: Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. (View Study)
• Hepcidin levels: Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. (View Study)
• Iron levels: Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. (View Study)
• Iron status biomarkers: Genome-wide association study identifies genetic loci associated with iron deficiency. (View Study)
• Iron status biomarkers: Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

OMIM

OMIM information for LTF

• Atransferrinemia

More OMIM information for TF

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