Product Details

SNP ID
rs80254867
Assay Type
Functionally tested
NCBI dbSNP Submissions
27
Location
Chr.1:155176044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGCGTGTGGTGGAGCGGTACC[A/G]CCAGAGTGTGAGTGTGGGAGGTGCC
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_001256599.1 776 Missense Mutation CAC,CGC H138R NP_001243528.1
NM_001256600.1 776 Missense Mutation CAC,CGC H148R NP_001243529.1
NM_001256601.1 776 Missense Mutation CAC,CGC H148R NP_001243530.1
NM_001282378.1 776 Missense Mutation CAC,CGC H35R NP_001269307.1
NM_001282379.1 776 Missense Mutation CAC,CGC H161R NP_001269308.1
NM_025058.4 776 Missense Mutation CAC,CGC H161R NP_079334.3
XM_011510002.1 776 Missense Mutation CAC,CGC H190R XP_011508304.1
XM_017002393.1 776 Missense Mutation CAC,CGC H148R XP_016857882.1

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