Product Details

SNP ID: rs200748019
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:1584508 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GATTGGCAACAGGATGACCCACAGC[A/C]TGAGGAACAGCAGCAGGGCTTACAG
Phenotype: MIM: 148022
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: KRTAP5-1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005922.1	776	Missense Mutation			NP_001005922.1

There are no transcripts associated with this gene.