Product Details

SNP ID
rs201654812
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:161047954 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGATGAGGCAGTAATCCCCACCCT[C/T]AGTACAGGTCTGGGTTCGCCGAACT
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 2882 Missense Mutation AAG,GAG K1023E NP_001020769.1
NM_001287600.1 2882 Missense Mutation AAG,GAG K875E NP_001274529.1
NM_001287602.1 2882 Missense Mutation AAG,GAG K846E NP_001274531.1
NM_181720.2 2882 Missense Mutation AAG,GAG K812E NP_859071.2
XM_005245070.2 2882 Missense Mutation AAG,GAG K966E XP_005245127.1
XM_005245073.3 2882 Missense Mutation AAG,GAG K875E XP_005245130.1
XM_011509391.2 2882 Missense Mutation AAG,GAG K875E XP_011507693.1
XM_017000960.1 2882 Missense Mutation AAG,GAG K889E 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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