Product Details

SNP ID

rs147520018

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:155175953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCAAGTGATCATGTTCCCGTGC[C/G]CAGCCTGCCAAGGTGATGTGGAGCT

Phenotype

MIM: 158340 MIM: 600986

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KRTCAP2 PubMed Links

Gene Details

Gene

KRTCAP2

Gene Name

keratinocyte associated protein 2

There are no transcripts associated with this gene.

Gene

MUC1

Gene Name

mucin 1, cell surface associated

There are no transcripts associated with this gene.

Gene

TRIM46

Gene Name

tripartite motif containing 46

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256599.1	685	Missense Mutation	CCA,GCA	P108A	NP_001243528.1
NM_001256600.1	685	Missense Mutation	CCA,GCA	P118A	NP_001243529.1
NM_001256601.1	685	Missense Mutation	CCA,GCA	P118A	NP_001243530.1
NM_001282378.1	685	Missense Mutation	CCA,GCA	P5A	NP_001269307.1
NM_001282379.1	685	Missense Mutation	CCA,GCA	P131A	NP_001269308.1
NM_025058.4	685	Missense Mutation	CCA,GCA	P131A	NP_079334.3
XM_011510002.1	685	Missense Mutation	CCA,GCA	P160A	XP_011508304.1
XM_017002393.1	685	Missense Mutation	CCA,GCA	P118A	XP_016857882.1

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