Product Details

SNP ID

rs183114446

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:31653989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGGAGGCCCTGGTCGTCCCGGA[G/T]CTGCCGCCATCTCCATGGGGAACTG

Phenotype

MIM: 120326 MIM: 610033

Polymorphism

G/T, Transversion 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	3015	Missense Mutation	GAT,GCT	D1471A	NP_001847.3
XM_005270481.1	3015	Missense Mutation	GAT,GCT	D1455A	XP_005270538.1
XM_011540722.1	3015	Missense Mutation	GAT,GCT	D1456A	XP_011539024.1
XM_011540723.1	3015	Missense Mutation	GAT,GCT	D1440A	XP_011539025.1
XM_011540724.1	3015	Missense Mutation	GAT,GCT	D1430A	XP_011539026.1
XM_011540726.2	3015	Missense Mutation	GAT,GCT	D1269A	XP_011539028.1
XM_011540727.2	3015	Missense Mutation	GAT,GCT	D1169A	XP_011539029.1
XM_011540728.2	3015	Missense Mutation	GAT,GCT	D956A	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	D1460A	XP_016855827.1
XM_017000339.1	3015	Missense Mutation	GAT,GCT	D1459A	XP_016855828.1
XM_017000340.1	3015	Missense Mutation	GAT,GCT	D944A	XP_016855829.1
XM_017000341.1	3015	Missense Mutation	GAT,GCT	D895A	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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