Product Details

SNP ID

rs143839762

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:161048288 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCACCCAGGCCAAGAGAACAGGG[C/G]CATAGACAGCCGTCTGGACTGGGCT

Phenotype

MIM: 614264 MIM: 616041 MIM: 191523

Polymorphism

C/G, Transversion 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	2548	Silent Mutation	TGC,TGT	C911C	NP_001020769.1
NM_001287600.1	2548	Silent Mutation	TGC,TGT	C763C	NP_001274529.1
NM_001287602.1	2548	Silent Mutation	TGC,TGT	C734C	NP_001274531.1
NM_181720.2	2548	Silent Mutation	TGC,TGT	C700C	NP_859071.2
XM_005245070.2	2548	Silent Mutation	TGC,TGT	C854C	XP_005245127.1
XM_005245073.3	2548	Silent Mutation	TGC,TGT	C763C	XP_005245130.1
XM_011509391.2	2548	Silent Mutation	TGC,TGT	C763C	XP_011507693.1
XM_017000960.1	2548	Silent Mutation	TGC,TGT	C777C	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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