Product Details

SNP ID

rs75862529

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:55003018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAATCAACGTGTACTGCCCCCATG[C/T]GGACCCTGGGAGGCCTGAGCGGCTA

Phenotype

MIM: 301300 MIM: 300773 MIM: 311790

Polymorphism

C/T, Transition 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	398	UTR 5			NP_001258677.1
NM_014481.3	398	Missense Mutation	GCG,GTG	A160V	NP_055296.2

Gene

PFKFB1

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

There are no transcripts associated with this gene.

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