Product Details

SNP ID

rs200666764

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:161048238 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCGGACCTGTTGGACCTGAACC[A/G]GAGTGGAAGCTAGACGCATGCCCAC

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	2598	Missense Mutation	CCG,CTG	P928L	NP_001020769.1
NM_001287600.1	2598	Missense Mutation	CCG,CTG	P780L	NP_001274529.1
NM_001287602.1	2598	Missense Mutation	CCG,CTG	P751L	NP_001274531.1
NM_181720.2	2598	Missense Mutation	CCG,CTG	P717L	NP_859071.2
XM_005245070.2	2598	Missense Mutation	CCG,CTG	P871L	XP_005245127.1
XM_005245073.3	2598	Missense Mutation	CCG,CTG	P780L	XP_005245130.1
XM_011509391.2	2598	Missense Mutation	CCG,CTG	P780L	XP_011507693.1
XM_017000960.1	2598	Missense Mutation	CCG,CTG	P794L	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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