Product Details

SNP ID

rs147856424

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52692499 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACAGCTTGACCCCCAGCATGGCC[C/T]GGTAGTCACGCAGCAGCCGGGCCAG

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	1140	Missense Mutation	CAG,CGG	Q450R	NP_778253.2
XM_011538288.2	1140	Missense Mutation	CAG,CGG	Q217R	XP_011536590.1
XM_011538289.2	1140	Intron			XP_011536591.1

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