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CCCTGGAGGCCCTGGTCGTCCCGGA[G/T]CTGCCGCCATCTCCATGGGGAACTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 120326 MIM: 610033 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL16A1 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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COL16A1 - collagen type XVI alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001856.3 | 3015 | Missense Mutation | GAT,GCT | D,A 1471 | NP_001847.3 | |
XM_005270481.1 | 3015 | Missense Mutation | GAT,GCT | D,A 1455 | XP_005270538.1 | |
XM_011540722.1 | 3015 | Missense Mutation | GAT,GCT | D,A 1456 | XP_011539024.1 | |
XM_011540723.1 | 3015 | Missense Mutation | GAT,GCT | D,A 1440 | XP_011539025.1 | |
XM_011540724.1 | 3015 | Missense Mutation | GAT,GCT | D,A 1430 | XP_011539026.1 | |
XM_011540726.2 | 3015 | Missense Mutation | GAT,GCT | D,A 1269 | XP_011539028.1 | |
XM_011540727.2 | 3015 | Missense Mutation | GAT,GCT | D,A 1169 | XP_011539029.1 | |
XM_011540728.2 | 3015 | Missense Mutation | GAT,GCT | D,A 956 | XP_011539030.1 | |
XM_011540729.1 | 3015 | Intron | XP_011539031.1 | |||
XM_011540730.1 | 3015 | Intron | XP_011539032.1 | |||
XM_017000338.1 | 3015 | Missense Mutation | GAT,GCT | D,A 1460 | XP_016855827.1 | |
XM_017000339.1 | 3015 | Missense Mutation | GAT,GCT | D,A 1459 | XP_016855828.1 | |
XM_017000340.1 | 3015 | Missense Mutation | GAT,GCT | D,A 944 | XP_016855829.1 | |
XM_017000341.1 | 3015 | Missense Mutation | GAT,GCT | D,A 895 | XP_016855830.1 |
PEF1 - penta-EF-hand domain containing 1 | ||||||
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There are no transcripts associated with this gene. |