Product Details

SNP ID

rs200356784

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52378316 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGAAGGTGACCCCGCCGCGGGA[C/G]AGGGTGGAGCCGGCAACCAAAGGCT

Phenotype

MIM: 602766

Polymorphism

C/G, 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	1684	Silent Mutation	CTC,CTG	L507L	NP_149034.2
XM_011538335.2	1684	Silent Mutation	CTC,CTG	L507L	XP_011536637.1

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