Product Details

SNP ID
rs201700775
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:130452242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCAGACGCTATGTCCAGCAAAG[C/G]CTCCGTGGTTCTGGCCTACAGTGGC
Phenotype
MIM: 603470
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ASS1 PubMed Links

Gene Details

Gene
ASS1
Gene Name
argininosuccinate synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000050.4 370 Missense Mutation GCC,GGC A5G NP_000041.2
NM_054012.3 370 Missense Mutation GCC,GGC A5G NP_446464.1
XM_005272200.3 370 Intron XP_005272257.1
XM_011518705.2 370 Intron XP_011517007.1
XM_017014729.1 370 Intron XP_016870218.1

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