Product Details

SNP ID
rs201424782
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:31654031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGAACTGCATCCTGGAGGTGTAG[C/T]AAGCCATTCTCTCTGTAAAAAAAGG
Phenotype
MIM: 120326 MIM: 610033
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL16A1 PubMed Links

Gene Details

Gene
COL16A1
Gene Name
collagen type XVI alpha 1 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001856.3 2973 Missense Mutation NP_001847.3
XM_005270481.1 2973 Missense Mutation XP_005270538.1
XM_011540722.1 2973 Missense Mutation XP_011539024.1
XM_011540723.1 2973 Missense Mutation XP_011539025.1
XM_011540724.1 2973 Missense Mutation XP_011539026.1
XM_011540726.2 2973 Missense Mutation XP_011539028.1
XM_011540727.2 2973 Missense Mutation XP_011539029.1
XM_011540728.2 2973 Missense Mutation XP_011539030.1
XM_011540729.1 2973 Intron XP_011539031.1
XM_011540730.1 2973 Intron XP_011539032.1
XM_017000338.1 2973 Missense Mutation XP_016855827.1
XM_017000339.1 2973 Missense Mutation XP_016855828.1
XM_017000340.1 2973 Missense Mutation XP_016855829.1
XM_017000341.1 2973 Missense Mutation XP_016855830.1
Gene
PEF1
Gene Name
penta-EF-hand domain containing 1
There are no transcripts associated with this gene.

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