Product Details

SNP ID

rs200518714

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52362283 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCGCCCTCCAGCAGGCGCCTGTA[A/G]GTGGCGATCTCGATGTCCAGGCCCA

Phenotype

MIM: 602767

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRT85 PubMed Links

Gene Details

Gene

KRT85

Gene Name

keratin 85

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300810.1	832	Silent Mutation	ACC,ACT	T210T	NP_001287739.1
NM_002283.3	832	Silent Mutation	ACC,ACT	T422T	NP_002274.1

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