Product Details

SNP ID
rs200169254
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:40349883 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAATCCAGGAGATGAAATCAAAC[C/G]TGGAGAACATCGACTTCAAGATGGC
Phenotype
MIM: 608222
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ADSL PubMed Links

Gene Details

Gene
ADSL
Gene Name
adenylosuccinate lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000026.3 229 Missense Mutation CTG,GTG L69V NP_000017.1
NM_001123378.2 229 Missense Mutation CTG,GTG L69V NP_001116850.1
NM_001317923.1 229 Missense Mutation CTG,GTG L5V NP_001304852.1
XM_011529977.2 229 Missense Mutation CTG,GTG L69V XP_011528279.1
XM_011529979.1 229 Missense Mutation CTG,GTG L69V XP_011528281.1
XM_011529980.2 229 Missense Mutation CTG,GTG L69V XP_011528282.1
XM_017028636.1 229 Missense Mutation CTG,GTG L69V XP_016884125.1
XM_017028637.1 229 Missense Mutation CTG,GTG L69V XP_016884126.1
XM_017028638.1 229 UTR 5 XP_016884127.1
XM_017028639.1 229 UTR 5 XP_016884128.1
XM_017028640.1 229 Intron XP_016884129.1

View Full Product Details