Product Details

SNP ID
rs140478074
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:161047975 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCAGTACAGGTCTGGGTTCGCC[A/G]AACTCCTTGAGCCTCAGTCCTTTGG
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 2861 Missense Mutation CGG,TGG R1016W NP_001020769.1
NM_001287600.1 2861 Missense Mutation CGG,TGG R868W NP_001274529.1
NM_001287602.1 2861 Missense Mutation CGG,TGG R839W NP_001274531.1
NM_181720.2 2861 Missense Mutation CGG,TGG R805W NP_859071.2
XM_005245070.2 2861 Missense Mutation CGG,TGG R959W XP_005245127.1
XM_005245073.3 2861 Missense Mutation CGG,TGG R868W XP_005245130.1
XM_011509391.2 2861 Missense Mutation CGG,TGG R868W XP_011507693.1
XM_017000960.1 2861 Missense Mutation CGG,TGG R882W 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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