Product Details

SNP ID
rs146123574
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:66082914 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGCAACGGCAGGGAAGCTGCACA[C/T]GGGACGGAGCCGGAATGACCAGGTG
Phenotype
MIM: 608310
Polymorphism
C/T, 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_000048.3 561 Missense Mutation ACG,ATG T109M NP_000039.2
NM_001024943.1 561 Missense Mutation ACG,ATG T109M NP_001020114.1
NM_001024944.1 561 Missense Mutation ACG,ATG T109M NP_001020115.1
NM_001024946.1 561 Missense Mutation ACG,ATG T109M NP_001020117.1

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