Product Details

SNP ID

rs200605894

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52691943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGGGCTCTGCTACTTACAGATG[C/T]TCACATGGCTCTGCAGCTCTCCTGA

Phenotype

MIM: 611158

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT77 PubMed Links

Gene Details

Gene

KRT77

Gene Name

keratin 77

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175078.2	1248	Missense Mutation	AAC,AGC	N486S	NP_778253.2
XM_011538288.2	1248	Missense Mutation	AAC,AGC	N253S	XP_011536590.1
XM_011538289.2	1248	Intron			XP_011536591.1

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