Product Details

SNP ID
rs140221164
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:66081952 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGGGCCTGGAGAAGGCAGGGCT[C/T]CTCACCAAGGCCGAGATGGACCAGA
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_000048.3 397 Silent Mutation CTC,CTT L54L NP_000039.2
NM_001024943.1 397 Silent Mutation CTC,CTT L54L NP_001020114.1
NM_001024944.1 397 Silent Mutation CTC,CTT L54L NP_001020115.1
NM_001024946.1 397 Silent Mutation CTC,CTT L54L NP_001020117.1

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