Product Details

SNP ID
rs61756357
Assay Type
Functionally tested
NCBI dbSNP Submissions
26
Location
Chr.1:155178117 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCATTGAAGAATGCCAGCAGGAGC[A/G]GCTGGCCCGTCTCAGCGCCCAGATC
Phenotype
MIM: 158340 MIM: 600986
Polymorphism
A/G, Transition 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 1319 Missense Mutation CAG,CGG Q319R NP_001243528.1
NM_001256600.1 1319 Missense Mutation CAG,CGG Q300R NP_001243529.1
NM_001256601.1 1319 Missense Mutation CAG,CGG Q329R NP_001243530.1
NM_001282378.1 1319 Missense Mutation CAG,CGG Q216R NP_001269307.1
NM_001282379.1 1319 Missense Mutation CAG,CGG Q342R NP_001269308.1
NM_025058.4 1319 Missense Mutation CAG,CGG Q342R NP_079334.3
XM_011510002.1 1319 Missense Mutation CAG,CGG Q371R XP_011508304.1
XM_017002393.1 1319 Missense Mutation CAG,CGG Q329R XP_016857882.1

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