Product Details

SNP ID

rs145930740

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1827575 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGCAGGACGAGTGCAAGAAGAAG[C/G]GGCTGCCCTGGACTCTGGCGAAGAG

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	352	Missense Mutation	CGG,GGG	R116G	NP_001018114.1
NM_001142398.1	352	Missense Mutation	CGG,GGG	R116G	NP_001135870.1
NM_031208.3	352	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	352	Intron			NP_001035517.1
NM_001286249.1	352	Intron			NP_001273178.1
NM_005326.4	352	Intron			NP_005317.2
XM_011522469.2	352	Intron			XP_011520771.1
XM_011522470.2	352	Intron			XP_011520772.1
XM_017023195.1	352	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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