Product Details

SNP ID

rs199738753

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52424672 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCACTGGTGGTGAAGGAGTAGC[C/T]GCTGCCCCCACCGAGGCCCAGGTTT

Phenotype

MIM: 609025

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT75 PubMed Links

Gene Details

Gene

KRT75

Gene Name

keratin 75

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004693.2	1523	Missense Mutation	AGC,GGC	S501G	NP_004684.2

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