Product Details

SNP ID
rs200913255
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41347152 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCTCATTCAGGACCTGGTTCAGG[C/T]CCACAGTGGGAGCAGCGTCCACCTC
Phenotype
MIM: 602761
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRT33A PubMed Links

Gene Details

Gene
KRT33A
Gene Name
keratin 33A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004138.3 463 Missense Mutation GAC,GGC D220G NP_004129.2
XM_011524786.2 463 Missense Mutation GAC,GGC D61G XP_011523088.1

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