Product Details

SNP ID
rs199784137
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:155173998 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGTGAGGATATGCAGACCTTCA[A/C]TTCCATCATGGACGCACTGGTCCGC
Phenotype
MIM: 600986
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KRTCAP2 PubMed Links

Gene Details

Gene
KRTCAP2
Gene Name
keratinocyte associated protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173852.3 285 Intron NP_776251.1
Gene
TRIM46
Gene Name
tripartite motif containing 46
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256599.1 285 UTR 5 NP_001243528.1
NM_001256600.1 285 UTR 5 NP_001243529.1
NM_001256601.1 285 Intron NP_001243530.1
NM_001282378.1 285 UTR 5 NP_001269307.1
NM_001282379.1 285 Missense Mutation AAT,ACT N11T NP_001269308.1
NM_025058.4 285 Missense Mutation AAT,ACT N11T NP_079334.3
XM_011510002.1 285 Missense Mutation AAT,ACT N11T XP_011508304.1
XM_017002393.1 285 UTR 5 XP_016857882.1

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