Product Details

SNP ID
rs142936882
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:155177286 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCTGGAGGAGGCCGTGAGGCACA[C/T]CGAGGTGAGGGAGGGCACAGAGGTA
Phenotype
MIM: 158340 MIM: 600986
Polymorphism
C/T, 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 1199 Missense Mutation ACC,ATC T279I NP_001243528.1
NM_001256600.1 1199 Intron NP_001243529.1
NM_001256601.1 1199 Missense Mutation ACC,ATC T289I NP_001243530.1
NM_001282378.1 1199 Missense Mutation ACC,ATC T176I NP_001269307.1
NM_001282379.1 1199 Missense Mutation ACC,ATC T302I NP_001269308.1
NM_025058.4 1199 Missense Mutation ACC,ATC T302I NP_079334.3
XM_011510002.1 1199 Missense Mutation ACC,ATC T331I XP_011508304.1
XM_017002393.1 1199 Missense Mutation ACC,ATC T289I XP_016857882.1

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