Product Details

SNP ID: rs3180304
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:55000577 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCTGTCTCCAGGAAACCAAAGTGA[A/C]CAGTGAGCGCTCTGGATTCCAGGAT
Phenotype: MIM: 301300 MIM: 300773 MIM: 311790
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: ALAS2 PubMed Links

Gene Details

Gene: ALAS2
Gene Name: 5'-aminolevulinate synthase 2

There are no transcripts associated with this gene.

Gene: APEX2
Gene Name: apurinic/apyrimidinic endodeoxyribonuclease 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271748.1	255	UTR 5			NP_001258677.1
NM_014481.3	255	Missense Mutation	AAC,ACC	N52T	NP_055296.2

Gene: PFKFB1
Gene Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271804.1	255	Intron			NP_001258733.1
NM_001271805.1	255	Intron			NP_001258734.1
NM_002625.3	255	Intron			NP_002616.2

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