Product Details

SNP ID
rs57419521
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52287112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGTTGGACCCACCTCTGCTCCT[T/C]GCCCTCCAGCAGGCGCCTGTAGGTG
Phenotype
MIM: 602153 MIM: 601928
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
KRT81 PubMed Links

Gene Details

Gene
KRT81
Gene Name
keratin 81
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002281.3 1287 Missense Mutation AAG,GAG K413E NP_002272.2
Gene
KRT86
Gene Name
keratin 86
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320198.1 1287 Intron NP_001307127.1
XM_005268866.4 1287 Intron XP_005268923.1
XM_017019296.1 1287 Intron XP_016874785.1

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