Product Details

SNP ID
rs143783083
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52378239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGGCGACCCGGGCTCCACCCAGG[A/C]TGGGGCCACAGGAAGCCAGGACCCC
Phenotype
MIM: 602766
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KRT84 PubMed Links

Gene Details

Gene
KRT84
Gene Name
keratin 84
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033045.3 1761 Missense Mutation AGC,ATC S533I NP_149034.2
XM_011538335.2 1761 Missense Mutation AGC,ATC S533I XP_011536637.1

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