Product Details

SNP ID
rs142700439
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1838118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAAGCAATCCTCCCTCAGCTTCC[C/T]GTTTCTGAGGTTACAGGTATGCACT
Phenotype
MIM: 616320
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAHD1 PubMed Links

Gene Details

Gene
FAHD1
Gene Name
fumarylacetoacetate hydrolase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018104.2 745 Missense Mutation CGT,TGT R247C NP_001018114.1
NM_001142398.1 745 Intron NP_001135870.1
NM_031208.3 745 Intron NP_112485.1
Gene
MEIOB
Gene Name
meiosis specific with OB domains
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163560.2 745 Intron NP_001157032.1
NM_152764.2 745 Intron NP_689977.2

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