Product Details

SNP ID

rs202207799

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52362279 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCCTCGCCCTCCAGCAGGCGCC[C/T]GTAGGTGGCGATCTCGATGTCCAGG

Phenotype

MIM: 602767

Polymorphism

C/T, 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	836	Missense Mutation	AGG,GGG	R212G	NP_001287739.1
NM_002283.3	836	Missense Mutation	AGG,GGG	R424G	NP_002274.1

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