Product Details

SNP ID
rs143497372
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:32090918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTGACATAATACAAAATAGTGA[A/C]GATGGAGTAGAATGCAAAATTCATG
Phenotype
MIM: 602680
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP5 PubMed Links

Gene Details

Gene
ARHGAP5
Gene Name
Rho GTPase activating protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001030055.1 533 Missense Mutation GAA,GAC E83D NP_001025226.1
NM_001173.2 533 Missense Mutation GAA,GAC E83D NP_001164.2
XM_005267635.3 533 Missense Mutation GAA,GAC E83D XP_005267692.1
XM_005267636.3 533 Missense Mutation GAA,GAC E83D XP_005267693.1
XM_017021287.1 533 Missense Mutation GAA,GAC E83D XP_016876776.1
XM_017021288.1 533 Missense Mutation GAA,GAC E83D XP_016876777.1

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