Product Details

SNP ID
rs148303726
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:40349951 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTACGACATGATGTGATGGCTCA[C/T]GTGCACACATTTGGCCACTGCTGTC
Phenotype
MIM: 608222
Polymorphism
C/T, Transition 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_000026.3 297 Silent Mutation CAC,CAT H91H NP_000017.1
NM_001123378.2 297 Silent Mutation CAC,CAT H91H NP_001116850.1
NM_001317923.1 297 Silent Mutation CAC,CAT H27H NP_001304852.1
XM_011529977.2 297 Silent Mutation CAC,CAT H91H XP_011528279.1
XM_011529979.1 297 Silent Mutation CAC,CAT H91H XP_011528281.1
XM_011529980.2 297 Silent Mutation CAC,CAT H91H XP_011528282.1
XM_017028636.1 297 Silent Mutation CAC,CAT H91H XP_016884125.1
XM_017028637.1 297 Silent Mutation CAC,CAT H91H XP_016884126.1
XM_017028638.1 297 UTR 5 XP_016884127.1
XM_017028639.1 297 UTR 5 XP_016884128.1
XM_017028640.1 297 Intron XP_016884129.1

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