Product Details

SNP ID
rs199790418
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:161048010 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCTCAGTCCTTTGGCGGTCCCGG[A/G]CTAGGGCCACAGCAGCATCAAAGGA
Phenotype
MIM: 614264 MIM: 616041 MIM: 191523
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARHGAP30 PubMed Links

Gene Details

Gene
ARHGAP30
Gene Name
Rho GTPase activating protein 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001025598.1 2826 Missense Mutation GCC,GTC A1004V NP_001020769.1
NM_001287600.1 2826 Missense Mutation GCC,GTC A856V NP_001274529.1
NM_001287602.1 2826 Missense Mutation GCC,GTC A827V NP_001274531.1
NM_181720.2 2826 Missense Mutation GCC,GTC A793V NP_859071.2
XM_005245070.2 2826 Missense Mutation GCC,GTC A947V XP_005245127.1
XM_005245073.3 2826 Missense Mutation GCC,GTC A856V XP_005245130.1
XM_011509391.2 2826 Missense Mutation GCC,GTC A856V XP_011507693.1
XM_017000960.1 2826 Missense Mutation GCC,GTC A870V XP_016856449.1
Gene
TSTD1
Gene Name
thiosulfate sulfurtransferase like domain containing 1
There are no transcripts associated with this gene.

Gene
USF1
Gene Name
upstream transcription factor 1
There are no transcripts associated with this gene.

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