Product Details

SNP ID
rs200226647
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:121004366 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACCTTCTTGGCTTTCTTTTTCAA[C/T]TTCCTTTTCTTCTTTGCCTCCTTCT
Phenotype
MIM: 142410
Polymorphism
C/T, 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_001286191.1 508 Silent Mutation AAA,AAG K223K NP_001273120.1
NM_001286192.1 508 Silent Mutation AAA,AAG K193K NP_001273121.1
NM_001286195.1 508 Silent Mutation AAA,AAG K182K NP_001273124.1
NM_001286196.1 508 Silent Mutation AAA,AAG K181K NP_001273125.1
NM_001286197.1 508 Silent Mutation AAA,AAG K160K NP_001273126.1
NM_001286198.1 508 Silent Mutation AAA,AAG K151K NP_001273127.1
NM_022895.2 508 Silent Mutation AAA,AAG K192K NP_075046.1
XM_017019829.1 508 Intron XP_016875318.1
Gene
HNF1A
Gene Name
HNF1 homeobox A
There are no transcripts associated with this gene.

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