Product Details

SNP ID

rs200531398

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:161041802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGCGTCTCAGCAGCTGTCCCCTC[C/T]GTGTCAACTGCATCATCACTGGTGA

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

There are no transcripts associated with this gene.

Gene

USF1

Gene Name

upstream transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276373.1	528	Silent Mutation	ACA,ACG	T107T	NP_001263302.1
NM_007122.4	528	Silent Mutation	ACA,ACG	T107T	NP_009053.1
NM_207005.2	528	Silent Mutation	ACA,ACG	T48T	NP_996888.1

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