Product Details

SNP ID
rs200194982
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:66081810 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGCTCTCCTGGCCAGAGTGGGA[A/T]GCTTTGGGGTGGCCGGTTTGTGGGT
Phenotype
MIM: 608310
Polymorphism
A/T, Transversion 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_000048.3 255 Missense Mutation AAG,ATG K7M NP_000039.2
NM_001024943.1 255 Missense Mutation AAG,ATG K7M NP_001020114.1
NM_001024944.1 255 Missense Mutation AAG,ATG K7M NP_001020115.1
NM_001024946.1 255 Missense Mutation AAG,ATG K7M NP_001020117.1

View Full Product Details