Product Details

SNP ID
rs149039264
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52839224 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAGCAGGAATCCAAAACAGGGTC[C/G]TTCCCAGAGCCCAGAATGATGTTGG
Phenotype
MIM: 611159 MIM: 611160
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KRT78 PubMed Links

Gene Details

Gene
KRT78
Gene Name
keratin 78
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300814.1 1134 Missense Mutation AAC,AAG N374K NP_001287743.1
NM_173352.3 1134 Missense Mutation AAC,AAG N484K NP_775487.2
XM_011538010.1 1134 Missense Mutation AAC,AAG N452K XP_011536312.1
Gene
KRT79
Gene Name
keratin 79
There are no transcripts associated with this gene.

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