Product Details

SNP ID
rs200269035
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41502380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCTGGAGAGGACCTACTTGGCG[A/T]CCTGGCCCTCGAGCAGGCTGCGGTA
Phenotype
MIM: 148065
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
KRT13 PubMed Links

Gene Details

Gene
KRT13
Gene Name
keratin 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002274.3 1301 Missense Mutation GAC,GTC D413V NP_002265.2
NM_153490.2 1301 Missense Mutation GAC,GTC D413V NP_705694.2

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