Product Details

SNP ID
rs150350443
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1827531 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACGTGGGCGGCTATGCCCTGTGCC[C/T]GGATATGACCGCCCGGGACGTGCAG
Phenotype
MIM: 616320 MIM: 138760
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FAHD1 PubMed Links
Additional Information
For this assay, SNP(s) [rs3743854] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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_001018104.2 308 Missense Mutation CCG,CTG P101L NP_001018114.1
NM_001142398.1 308 Missense Mutation CCG,CTG P101L NP_001135870.1
NM_031208.3 308 Intron NP_112485.1
Gene
HAGH
Gene Name
hydroxyacylglutathione hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040427.1 308 Intron NP_001035517.1
NM_001286249.1 308 Intron NP_001273178.1
NM_005326.4 308 Intron NP_005317.2
XM_011522469.2 308 Intron XP_011520771.1
XM_011522470.2 308 Intron XP_011520772.1
XM_017023195.1 308 Intron XP_016878684.1
Gene
MEIOB
Gene Name
meiosis specific with OB domains
There are no transcripts associated with this gene.

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