Product Details

SNP ID
rs141046612
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:66082402 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTGGGCCCAGGGCACCTTCAAAC[C/T]GAACTCCAATGATGAGGACATCCAC
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_000048.3 477 Missense Mutation CCG,CTG P81L NP_000039.2
NM_001024943.1 477 Missense Mutation CCG,CTG P81L NP_001020114.1
NM_001024944.1 477 Missense Mutation CCG,CTG P81L NP_001020115.1
NM_001024946.1 477 Missense Mutation CCG,CTG P81L NP_001020117.1

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