Product Details

SNP ID
rs200604682
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52807680 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTCCAGCAGTTTGCGGTAGGTG[A/G]CGATCTCGATGTCCAAGGCCAGCTT
Phenotype
MIM: 123940
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KRT4 PubMed Links

Gene Details

Gene
KRT4
Gene Name
keratin 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002272.3 1368 Missense Mutation GCC,GTC A437V NP_002263.3

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