Product Details

SNP ID
rs200017624
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:161047833 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGGGGGGCAGACTAAGACGACTC[C/T]GGGATCCAGACCCTTCTGCACCTTC
Phenotype
MIM: 614264 MIM: 616041 MIM: 191523
Polymorphism
C/T, 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 3003 Missense Mutation CAG,CGG Q1063R NP_001020769.1
NM_001287600.1 3003 Missense Mutation CAG,CGG Q915R NP_001274529.1
NM_001287602.1 3003 Missense Mutation CAG,CGG Q886R NP_001274531.1
NM_181720.2 3003 Missense Mutation CAG,CGG Q852R NP_859071.2
XM_005245070.2 3003 Missense Mutation CAG,CGG Q1006R XP_005245127.1
XM_005245073.3 3003 Missense Mutation CAG,CGG Q915R XP_005245130.1
XM_011509391.2 3003 Missense Mutation CAG,CGG Q915R XP_011507693.1
XM_017000960.1 3003 Missense Mutation CAG,CGG Q929R 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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