Product Details

SNP ID
rs145065295
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41460118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGCACAAAGGGACTTCAGTAGC[A/G]GCCCTGGGGGCAGGGTGAGCAAGGC
Phenotype
MIM: 602760
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KRT32 PubMed Links

Gene Details

Gene
KRT32
Gene Name
keratin 32
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002278.3 1400 Missense Mutation CGC,TGC R447C NP_002269.3

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