Product Details

SNP ID

rs8801

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52233465 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGGCCGTGCGCTCTGCCTATGGG[G/T]GCCCGGTGGGCGCCGGCATCCGCGA

Phenotype

MIM: 148059

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KRT7 PubMed Links

Gene Details

Gene

KRT7

Gene Name

keratin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005556.3	249	Missense Mutation	GGC,TGC	G57C	NP_005547.3
XM_011538325.1	249	Missense Mutation	GGC,TGC	G57C	XP_011536627.1
XM_017019294.1	249	Intron			XP_016874783.1

Gene

LINC00592

Gene Name

long intergenic non-protein coding RNA 592

There are no transcripts associated with this gene.

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