Product Details

SNP ID
rs199503972
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52586163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCCTGCCCCAGCATTGGTGCTG[C/T]TGATGACGGCTGGAATGGATGAGAG
Phenotype
MIM: 608246
Polymorphism
C/T, Transition 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 1143 Missense Mutation AAC,AGC N452S NP_001139697.1
NM_001146226.1 1143 Missense Mutation AAC,AGC N410S NP_001139698.1
NM_080747.2 1143 Missense Mutation AAC,AGC N452S NP_542785.1
XM_017018833.1 1143 Missense Mutation AAC,AGC N386S XP_016874322.1
XM_017018834.1 1143 Missense Mutation AAC,AGC N383S XP_016874323.1
XM_017018835.1 1143 Missense Mutation AAC,AGC N380S XP_016874324.1
XM_017018836.1 1143 Missense Mutation AAC,AGC N360S XP_016874325.1
XM_017018837.1 1143 Missense Mutation AAC,AGC N212S XP_016874326.1

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