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CCAGACAAACACCTATGACGCCCAG[C/T]ATGAGAGGTGATTGACTGACGTGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615123 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKRD13A PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ANKRD13A - ankyrin repeat domain 13A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033121.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 524 | NP_149112.1 | |
XM_005253980.2 | 1829 | Missense Mutation | CAT,TAT | H,Y 525 | XP_005254037.1 | |
XM_005253981.3 | 1829 | Missense Mutation | CAT,TAT | H,Y 524 | XP_005254038.1 | |
XM_005253982.3 | 1829 | Missense Mutation | CAT,TAT | H,Y 523 | XP_005254039.1 | |
XM_005253984.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 437 | XP_005254041.1 | |
XM_011538937.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 477 | XP_011537239.1 | |
XM_011538938.2 | 1829 | UTR 3 | XP_011537240.1 | |||
XM_017020157.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 487 | XP_016875646.1 | |
XM_017020158.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 485 | XP_016875647.1 | |
XM_017020159.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 436 | XP_016875648.1 | |
XM_017020160.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 436 | XP_016875649.1 | |
XM_017020161.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 435 | XP_016875650.1 | |
XM_017020162.1 | 1829 | UTR 3 | XP_016875651.1 | |||
XM_017020163.1 | 1829 | Missense Mutation | CAT,TAT | H,Y 359 | XP_016875652.1 |
C12orf76 - chromosome 12 open reading frame 76 | ||||||
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There are no transcripts associated with this gene. |