Product Details

SNP ID
rs201799139
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:55009226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGGCCCCATGTTCCCGAAGTAG[A/G]AACGTTCCCACTCACTCATGAGCTC
Phenotype
MIM: 301300 MIM: 300773
Polymorphism
A/G, 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 1852 Missense Mutation TCC,TTC S573F NP_000023.2
NM_001037967.3 1852 Missense Mutation TCC,TTC S536F NP_001033056.1
NM_001037968.3 1852 Missense Mutation TCC,TTC S560F NP_001033057.1
XM_005261995.3 1852 Missense Mutation TCC,TTC S597F XP_005262052.1
XM_011530771.1 1852 Missense Mutation TCC,TTC S286F XP_011529073.1
XM_017029354.1 1852 Intron XP_016884843.1
Gene
APEX2
Gene Name
apurinic/apyrimidinic endodeoxyribonuclease 2
There are no transcripts associated with this gene.

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