Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTCTTACTCCTGGCAAGCCCTGCC[A/G]TCCTTCTCTGCCAATCTGACCAGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
12 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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 3113 | Missense Mutation | CGG,TGG | R,W 1504 | NP_001847.3 | |
XM_005270481.1 | 3113 | Missense Mutation | CGG,TGG | R,W 1488 | XP_005270538.1 | |
XM_011540722.1 | 3113 | Missense Mutation | CGG,TGG | R,W 1489 | XP_011539024.1 | |
XM_011540723.1 | 3113 | Missense Mutation | CGG,TGG | R,W 1473 | XP_011539025.1 | |
XM_011540724.1 | 3113 | Missense Mutation | CGG,TGG | R,W 1463 | XP_011539026.1 | |
XM_011540726.2 | 3113 | Missense Mutation | CGG,TGG | R,W 1302 | XP_011539028.1 | |
XM_011540727.2 | 3113 | Missense Mutation | CGG,TGG | R,W 1202 | XP_011539029.1 | |
XM_011540728.2 | 3113 | Missense Mutation | CGG,TGG | R,W 989 | XP_011539030.1 | |
XM_011540729.1 | 3113 | Intron | XP_011539031.1 | |||
XM_011540730.1 | 3113 | Intron | XP_011539032.1 | |||
XM_017000338.1 | 3113 | Missense Mutation | CGG,TGG | R,W 1493 | XP_016855827.1 | |
XM_017000339.1 | 3113 | Missense Mutation | CGG,TGG | R,W 1492 | XP_016855828.1 | |
XM_017000340.1 | 3113 | Missense Mutation | CGG,TGG | R,W 977 | XP_016855829.1 | |
XM_017000341.1 | 3113 | Missense Mutation | CGG,TGG | R,W 928 | XP_016855830.1 |
PEF1 - penta-EF-hand domain containing 1 | ||||||
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There are no transcripts associated with this gene. |