Product Details

SNP ID
rs200701039
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1834280 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAAACATGTTTTTGTCCAGACAA[C/G]TTTCTGCTTGCCTCAGTAGGATCTG
Phenotype
MIM: 616320 MIM: 138760
Polymorphism
C/G, Transversion 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 1587 Intron NP_001018114.1
NM_001142398.1 1587 Intron NP_001135870.1
NM_031208.3 1587 Intron NP_112485.1
Gene
HAGH
Gene Name
hydroxyacylglutathione hydrolase
There are no transcripts associated with this gene.

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 1587 Missense Mutation AAC,AAG N464K NP_001157032.1
NM_152764.2 1587 Missense Mutation AAC,AAG N435K NP_689977.2

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