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SNP ID

rs12844061

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:55012354 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCTCCATAATGTGTCCACTCCC[A/T]CTAGCTCCCAGAATACTGGAGCTCA

Phenotype

MIM: 301300 MIM: 300773

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ALAS2 PubMed Links

Gene Details

Gene

ALAS2

Gene Name

5'-aminolevulinate synthase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000032.4		Intron			NP_000023.2
NM_001037967.3		Intron			NP_001033056.1
NM_001037968.3		Intron			NP_001033057.1
XM_005261995.3		Intron			XP_005262052.1
XM_011530771.1		Intron			XP_011529073.1
XM_017029354.1		Intron			XP_016884843.1

Gene

APEX2

Gene Name

apurinic/apyrimidinic endodeoxyribonuclease 2

There are no transcripts associated with this gene.

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