Product Details

SNP ID
rs140491832
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63276590 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTGGAGTCTCAGGAGGATTACG[A/T]TCCTTGCTGGTCCTTGCAGGAGAAG
Phenotype
MIM: 608377
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ARFGAP1 PubMed Links

Gene Details

Gene
ARFGAP1
Gene Name
ADP ribosylation factor GTPase activating protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281482.1 487 Missense Mutation GAT,GTT D94V NP_001268411.1
NM_001281483.1 487 Missense Mutation GAT,GTT D41V NP_001268412.1
NM_001281484.1 487 Missense Mutation ATC,TTC I15F NP_001268413.1
NM_018209.3 487 Missense Mutation GAT,GTT D94V NP_060679.1
NM_175609.2 487 Missense Mutation GAT,GTT D94V NP_783202.1
XM_006723823.2 487 Missense Mutation GAT,GTT D94V XP_006723886.1
XM_011528901.1 487 Missense Mutation GAT,GTT D94V XP_011527203.1
XM_017027950.1 487 Missense Mutation GAT,GTT D94V XP_016883439.1

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