Product Details

SNP ID
rs200549335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:121004328 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGGGGGTGGTGGCAGCGACAGCC[A/G]AGTCGACACTGGCCACCTTCTTGGC
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_001286191.1 546 Missense Mutation TCG,TTG S236L NP_001273120.1
NM_001286192.1 546 Missense Mutation TCG,TTG S206L NP_001273121.1
NM_001286195.1 546 Missense Mutation TCG,TTG S195L NP_001273124.1
NM_001286196.1 546 Missense Mutation TCG,TTG S194L NP_001273125.1
NM_001286197.1 546 Missense Mutation TCG,TTG S173L NP_001273126.1
NM_001286198.1 546 Missense Mutation TCG,TTG S164L NP_001273127.1
NM_022895.2 546 Missense Mutation TCG,TTG S205L NP_075046.1
XM_017019829.1 546 Intron XP_016875318.1
Gene
HNF1A
Gene Name
HNF1 homeobox A
There are no transcripts associated with this gene.

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