Product Details

SNP ID

rs142471183

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45395575 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCGGGCCGCAGCAGCGTGGGCC[C/G]GAACACAATGGCCACGCTCTGCACC

Phenotype

MIM: 610591

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARHGAP27 PubMed Links

Gene Details

Gene

ARHGAP27

Gene Name

Rho GTPase activating protein 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282290.1	2951	Missense Mutation	CGG,GGG	R851G	NP_001269219.1
NM_174919.3	2951	Intron			NP_777579.2
NM_199282.2	2951	Missense Mutation	CGG,GGG	R510G	NP_954976.1
XM_005257128.3	2951	Missense Mutation	CGG,GGG	R629G	XP_005257185.1
XM_006721745.2	2951	Missense Mutation	CGG,GGG	R851G	XP_006721808.1
XM_006721747.2	2951	Missense Mutation	CGG,GGG	R829G	XP_006721810.1
XM_006721750.3	2951	Intron			XP_006721813.1
XM_011524468.1	2951	Missense Mutation	CGG,GGG	R884G	XP_011522770.1
XM_011524469.1	2951	Missense Mutation	CGG,GGG	R862G	XP_011522771.1
XM_011524470.2	2951	UTR 3			XP_011522772.1
XM_011524471.1	2951	Missense Mutation	CGG,GGG	R827G	XP_011522773.1
XM_011524472.2	2951	Missense Mutation	CGG,GGG	R684G	XP_011522774.1
XM_011524473.2	2951	Intron			XP_011522775.1
XM_011524474.1	2951	Missense Mutation	CGG,GGG	R543G	XP_011522776.1
XM_017024311.1	2951	Missense Mutation	CGG,GGG	R884G	XP_016879800.1
XM_017024312.1	2951	Missense Mutation	CGG,GGG	R651G	XP_016879801.1
XM_017024313.1	2951	Intron			XP_016879802.1

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