Product Details

SNP ID

rs143783083

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52378239 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGGCGACCCGGGCTCCACCCAGG[A/C]TGGGGCCACAGGAAGCCAGGACCCC

Phenotype

MIM: 602766

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KRT84 PubMed Links

Gene Details

Gene

KRT84

Gene Name

keratin 84

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033045.3	1761	Missense Mutation	AGC,ATC	S533I	NP_149034.2
XM_011538335.2	1761	Missense Mutation	AGC,ATC	S533I	XP_011536637.1

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