Product Details

SNP ID
rs139865127
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52199357 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAACTGCCCCAAGATGATGGAAG[C/T]TGGGGCCAAGCCAGCCCCTCGGGCA
Phenotype
MIM: 125290
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALAS1 PubMed Links

Gene Details

Gene
ALAS1
Gene Name
5'-aminolevulinate synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000688.5 446 Missense Mutation GCT,GTT A39V NP_000679.1
NM_001304443.1 446 Missense Mutation GCT,GTT A39V NP_001291372.1
NM_001304444.1 446 Missense Mutation GCT,GTT A56V NP_001291373.1
NM_199166.2 446 Missense Mutation GCT,GTT A39V NP_954635.1
XM_011533477.1 446 Missense Mutation GCT,GTT A56V XP_011531779.1
XM_011533478.2 446 Missense Mutation GCT,GTT A56V XP_011531780.1
XM_017005873.1 446 Missense Mutation GCT,GTT A39V XP_016861362.1

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