LOC100006895

Ensembl ID:
ENSDARG00000077872
Human Orthologue:
A2ML1
Human Description:
alpha-2-macroglobulin-like 1 [Source:HGNC Symbol;Acc:23336]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa4342 Nonsense Mutation detected in F1 DNA During 2014
sa22629 Nonsense Mutation detected in F1 DNA During 2014
sa13829 Nonsense Available for shipment Available now
sa11423 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa4342
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033228 Nonsense 23 917 1 23
ENSDART00000038499 Nonsense 21 1434 1 34
Genomic Location:
Chromosome 15 (position 20128862)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTAGCTGTTGTTGGAAAGGGCTCCTCCTGATCTTTTTCCTCCTCGTCTG[T/A]GTCAATGGAAAAACAGCAAGGCCGTAAGTTTTTAGCACTTTTGAGGAATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22629
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033228 Nonsense 192 917 6 23
ENSDART00000038499 Nonsense 190 1434 6 34
Genomic Location:
Chromosome 15 (position 20131501)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTCAATGGACAAATGTTTCCTCAACAAGGTGGATTTTGCAGCGTTCATA[T/A]GAATTAAACCCAGAATGTCGTGAAGGCACATACAAACTAAAGACTTTTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13829
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033228 Nonsense 225 917 7 23
ENSDART00000038499 Nonsense 223 1434 7 34
Genomic Location:
Chromosome 15 (position 20131700)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTTATTTTACTACTAATGACTTTRATTTCTGTCYTCKGATTTCTAGTTT[T/A]GCCTAAGTTTGAAGTTACAGTAAAAAAACCAAATAAAGTGAGTGTTGATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11423
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033228 None None 917 None 23
ENSDART00000038499 Nonsense 1398 1434 33 34
Genomic Location:
Chromosome 15 (position 20159490)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTGTGTTCTCCTGCAGATCTATAAAAATGTTGCAATGAATTACCAGATA[C/T]AAATGAAACAGGTTCTACCAGTTAAGAATCTCAAGCCAGCTGTGGTCAAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/2xjh1igh