Product Details

SNP ID

rs892041887

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:55009265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCATGAGCTCAAAGTGTACAGGA[C/T]GGCGACAGAAATTGCAGGCAGCCAC

Phenotype

MIM: 301300 MIM: 300773

Polymorphism

C/T, Transition 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	1813	Missense Mutation	CAT,CGT	H560R	NP_000023.2
NM_001037967.3	1813	Missense Mutation	CAT,CGT	H523R	NP_001033056.1
NM_001037968.3	1813	Missense Mutation	CAT,CGT	H547R	NP_001033057.1

Gene

APEX2

Gene Name

apurinic/apyrimidinic endodeoxyribonuclease 2

There are no transcripts associated with this gene.

View Full Product Details