Product Details

SNP ID

rs138976951

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:161048240 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGGACCTGTTGGACCTGAACCAG[A/C]GTGGAAGCTAGACGCATGCCCACGC

Phenotype

MIM: 614264 MIM: 616041 MIM: 191523

Polymorphism

A/C, 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	2596	Silent Mutation	ACG,ACT	T927T	NP_001020769.1
NM_001287600.1	2596	Silent Mutation	ACG,ACT	T779T	NP_001274529.1
NM_001287602.1	2596	Silent Mutation	ACG,ACT	T750T	NP_001274531.1
NM_181720.2	2596	Silent Mutation	ACG,ACT	T716T	NP_859071.2
XM_005245070.2	2596	Silent Mutation	ACG,ACT	T870T	XP_005245127.1
XM_005245073.3	2596	Silent Mutation	ACG,ACT	T779T	XP_005245130.1
XM_011509391.2	2596	Silent Mutation	ACG,ACT	T779T	XP_011507693.1
XM_017000960.1	2596	Silent Mutation	ACG,ACT	T793T	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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