Product Details

SNP ID
rs140434382
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27053036 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTAGCCCACGTGGAGAAGGTGGA[A/C]TCTTTGTCCAGTGATGGGGAAGGGG
Phenotype
MIM: 615900
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
AGBL5 PubMed Links

Gene Details

Gene
AGBL5
Gene Name
ATP/GTP binding protein like 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001035507.2 256 Missense Mutation GAA,GAC E26D NP_001030584.1
NM_021831.5 256 Missense Mutation GAA,GAC E26D NP_068603.4
XM_005264477.2 256 Missense Mutation GAA,GAC E26D XP_005264534.1
XM_011533011.2 256 Missense Mutation GAA,GAC E26D XP_011531313.1
XM_011533012.2 256 Missense Mutation GAA,GAC E26D XP_011531314.1
XM_011533013.2 256 Missense Mutation GAA,GAC E26D XP_011531315.1
Gene
AGBL5-AS1
Gene Name
AGBL5 antisense RNA 1
There are no transcripts associated with this gene.

Gene
TRA-AGC8-1
Gene Name
transfer RNA-Ala (AGC) 8-1
There are no transcripts associated with this gene.

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