Product Details

SNP ID

rs2301416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:55002430 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCCCTCCTCACACAGCATAAGATC[T/C]GGTAATAGCTCATATCTCCCTGCTA

Phenotype

MIM: 301300 MIM: 300773 MIM: 311790

Polymorphism

T/C, 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	521	Intron			NP_001258677.1
NM_014481.3	521	Missense Mutation	CGC,TGC	R141C	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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