Product Details

SNP ID
rs8192454
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:40346591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGGCGATCATGGTTCGCCCGA[C/G]AGCTACCGCTCACCTCTTGCCTCCC
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 57 Missense Mutation GAC,GAG D11E NP_000017.1
NM_001123378.2 57 Missense Mutation GAC,GAG D11E NP_001116850.1
NM_001317923.1 57 UTR 5 NP_001304852.1
XM_011529977.2 57 Missense Mutation GAC,GAG D11E XP_011528279.1
XM_011529979.1 57 Missense Mutation GAC,GAG D11E XP_011528281.1
XM_011529980.2 57 Missense Mutation GAC,GAG D11E XP_011528282.1
XM_017028636.1 57 Missense Mutation GAC,GAG D11E XP_016884125.1
XM_017028637.1 57 Missense Mutation GAC,GAG D11E XP_016884126.1
XM_017028638.1 57 UTR 5 XP_016884127.1
XM_017028639.1 57 UTR 5 XP_016884128.1
XM_017028640.1 57 Intron XP_016884129.1

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