Product Details

SNP ID

rs200109024

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45396700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGCCCTTCTCCCGCAGCGACTGC[A/G]GTGTGGGCCGCCTCTGGAGGAACTT

Phenotype

MIM: 610591

Polymorphism

A/G, Transition 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	2442	Missense Mutation	CCG,CTG	P681L	NP_001269219.1
NM_174919.3	2442	Intron			NP_777579.2
NM_199282.2	2442	Missense Mutation	CCG,CTG	P340L	NP_954976.1
XM_005257128.3	2442	Missense Mutation	CCG,CTG	P459L	XP_005257185.1
XM_006721745.2	2442	Missense Mutation	CCG,CTG	P681L	XP_006721808.1
XM_006721747.2	2442	Missense Mutation	CCG,CTG	P659L	XP_006721810.1
XM_006721750.3	2442	Intron			XP_006721813.1
XM_011524468.1	2442	Missense Mutation	CCG,CTG	P714L	XP_011522770.1
XM_011524469.1	2442	Missense Mutation	CCG,CTG	P692L	XP_011522771.1
XM_011524470.2	2442	Missense Mutation	CCG,CTG	P714L	XP_011522772.1
XM_011524471.1	2442	Missense Mutation	CCG,CTG	P657L	XP_011522773.1
XM_011524472.2	2442	Missense Mutation	CCG,CTG	P514L	XP_011522774.1
XM_011524473.2	2442	Intron			XP_011522775.1
XM_011524474.1	2442	Missense Mutation	CCG,CTG	P373L	XP_011522776.1
XM_017024311.1	2442	Missense Mutation	CCG,CTG	P714L	XP_016879800.1
XM_017024312.1	2442	Missense Mutation	CCG,CTG	P481L	XP_016879801.1
XM_017024313.1	2442	Intron			XP_016879802.1

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