Product Details

SNP ID

rs150321809

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41501347 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGTCGTGGTAACAGAGGTGCTA[C/T]GGGGGCTGACGCTTCCTGGGAAACA

Phenotype

MIM: 148065

Polymorphism

C/T, Transition 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	1323	Silent Mutation	CCA,CCG	P420P	NP_002265.2
NM_153490.2	1323	Missense Mutation	CAT,CGT	H429R	NP_705694.2

View Full Product Details