Product Details

SNP ID
rs145138923
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:66081825 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAGTGGGAAGCTTTGGGGTGGCC[A/G]GTTTGTGGGTGCAGTGGACCCCATC
Phenotype
MIM: 608310
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ASL PubMed Links

Gene Details

Gene
ASL
Gene Name
argininosuccinate lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000048.3 270 Missense Mutation CAG,CGG Q12R NP_000039.2
NM_001024943.1 270 Missense Mutation CAG,CGG Q12R NP_001020114.1
NM_001024944.1 270 Missense Mutation CAG,CGG Q12R NP_001020115.1
NM_001024946.1 270 Missense Mutation CAG,CGG Q12R NP_001020117.1

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