Product Details

SNP ID
rs139203717
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:121004477 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCCGGCACCGCCGCCACTCCTC[A/G]TCACTGTCCTCACTGCTGCAACGAG
Phenotype
MIM: 142410
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C12orf43 PubMed Links

Gene Details

Gene
C12orf43
Gene Name
chromosome 12 open reading frame 43
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286191.1 397 Silent Mutation GAC,GAT D186D NP_001273120.1
NM_001286192.1 397 Silent Mutation GAC,GAT D156D NP_001273121.1
NM_001286195.1 397 Silent Mutation GAC,GAT D145D NP_001273124.1
NM_001286196.1 397 Silent Mutation GAC,GAT D144D NP_001273125.1
NM_001286197.1 397 Silent Mutation GAC,GAT D123D NP_001273126.1
NM_001286198.1 397 Silent Mutation GAC,GAT D114D NP_001273127.1
NM_022895.2 397 Silent Mutation GAC,GAT D155D NP_075046.1
XM_017019829.1 397 Intron XP_016875318.1
Gene
HNF1A
Gene Name
HNF1 homeobox A
There are no transcripts associated with this gene.

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