Product Details

SNP ID

rs149134550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41502687 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGGGCAGGAGGCTGCAGGCATAC[C/T]ATGCTCAGCTGGGACTGCAGCTCAA

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	1086	Missense Mutation	ATA,ATG	I341M	NP_002265.2
NM_153490.2	1086	Missense Mutation	ATA,ATG	I341M	NP_705694.2

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