Product Details

SNP ID
rs143154805
Assay Type
Functionally tested
NCBI dbSNP Submissions
20
Location
Chr.1:155178126 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATGCCAGCAGGAGCGGCTGGCCC[A/G]TCTCAGCGCCCAGATCCAGGAGCAC
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 1328 Missense Mutation CAT,CGT H322R NP_001243528.1
NM_001256600.1 1328 Missense Mutation CAT,CGT H303R NP_001243529.1
NM_001256601.1 1328 Missense Mutation CAT,CGT H332R NP_001243530.1
NM_001282378.1 1328 Missense Mutation CAT,CGT H219R NP_001269307.1
NM_001282379.1 1328 Missense Mutation CAT,CGT H345R NP_001269308.1
NM_025058.4 1328 Missense Mutation CAT,CGT H345R NP_079334.3
XM_011510002.1 1328 Missense Mutation CAT,CGT H374R XP_011508304.1
XM_017002393.1 1328 Missense Mutation CAT,CGT H332R XP_016857882.1

View Full Product Details