Product Details

SNP ID
rs139741254
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41363868 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAAGGTGTTGCAAGGCCCACAGC[A/G]GGAACGAGGACCACAAGGATTGGTG
Phenotype
MIM: 602762
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
KRT33B PubMed Links

Gene Details

Gene
KRT33B
Gene Name
keratin 33B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002279.4 1233 Missense Mutation CGC,TGC R395C NP_002270.1

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