Product Details

SNP ID
rs147152413
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52585986 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGAGCCAACCACTTGTCCATCAT[C/G]TGGAGGCCTTTTTGGTGGCACAGCT
Phenotype
MIM: 608246
Polymorphism
C/G, 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 1320 Missense Mutation ACA,AGA T511R NP_001139697.1
NM_001146226.1 1320 Missense Mutation ACA,AGA T469R NP_001139698.1
NM_080747.2 1320 Missense Mutation ACA,AGA T511R NP_542785.1
XM_017018833.1 1320 Missense Mutation ACA,AGA T445R XP_016874322.1
XM_017018834.1 1320 Missense Mutation ACA,AGA T442R XP_016874323.1
XM_017018835.1 1320 Missense Mutation ACA,AGA T439R XP_016874324.1
XM_017018836.1 1320 Missense Mutation ACA,AGA T419R XP_016874325.1
XM_017018837.1 1320 Missense Mutation ACA,AGA T271R XP_016874326.1

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