Product Details

SNP ID
rs11170183
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52587658 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCACTCCTCGCTCTCCAGCAGCTTG[A/C]GGTAGGTGGCGATCTCCATATCCAG
Phenotype
MIM: 608246
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KRT72 PubMed Links

Gene Details

Gene
KRT72
Gene Name
keratin 72
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146225.1 1071 Missense Mutation NP_001139697.1
NM_001146226.1 1071 Missense Mutation NP_001139698.1
NM_080747.2 1071 Missense Mutation NP_542785.1
XM_017018833.1 1071 Missense Mutation XP_016874322.1
XM_017018834.1 1071 Missense Mutation XP_016874323.1
XM_017018835.1 1071 Missense Mutation XP_016874324.1
XM_017018836.1 1071 Missense Mutation XP_016874325.1
XM_017018837.1 1071 Missense Mutation XP_016874326.1

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