Product Details

SNP ID: rs200060439
Assay Type: Functionally tested
NCBI dbSNP Submissions: 2
Location: Chr.1:161039933 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAATCCCCATAGTTAGTTGCTGTCA[C/T]TCTTGATGACGACCTCTAATCCGTG
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

There are no transcripts associated with this gene.

Gene: TSTD1
Gene Name: thiosulfate sulfurtransferase like domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001113205.1	1127	Intron			NP_001106676.1
NM_001113206.1	1127	Intron			NP_001106677.1
NM_001113207.1	1127	Intron			NP_001106678.1

Gene: USF1
Gene Name: upstream transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276373.1	1127	Missense Mutation	AAT,AGT	N307S	NP_001263302.1
NM_007122.4	1127	Missense Mutation	AAT,AGT	N307S	NP_009053.1
NM_207005.2	1127	Missense Mutation	AAT,AGT	N248S	NP_996888.1

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