Product Details

SNP ID

rs201648544

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45396207 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGGGGTTGGGGACGGGCCTCAC[C/G]GTGGTCCACCTTATAGCGTAGCTTC

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	2651	Missense Mutation	CAT,GAT	H751D	NP_001269219.1
NM_174919.3	2651	Intron			NP_777579.2
NM_199282.2	2651	Missense Mutation	CAT,GAT	H410D	NP_954976.1
XM_005257128.3	2651	Missense Mutation	CAT,GAT	H529D	XP_005257185.1
XM_006721745.2	2651	Missense Mutation	CAT,GAT	H751D	XP_006721808.1
XM_006721747.2	2651	Missense Mutation	CAT,GAT	H729D	XP_006721810.1
XM_006721750.3	2651	Intron			XP_006721813.1
XM_011524468.1	2651	Missense Mutation	CAT,GAT	H784D	XP_011522770.1
XM_011524469.1	2651	Missense Mutation	CAT,GAT	H762D	XP_011522771.1
XM_011524470.2	2651	Missense Mutation	CAT,GAT	H784D	XP_011522772.1
XM_011524471.1	2651	Missense Mutation	CAT,GAT	H727D	XP_011522773.1
XM_011524472.2	2651	Missense Mutation	CAT,GAT	H584D	XP_011522774.1
XM_011524473.2	2651	Intron			XP_011522775.1
XM_011524474.1	2651	Missense Mutation	CAT,GAT	H443D	XP_011522776.1
XM_017024311.1	2651	Missense Mutation	CAT,GAT	H784D	XP_016879800.1
XM_017024312.1	2651	Missense Mutation	CAT,GAT	H551D	XP_016879801.1
XM_017024313.1	2651	Intron			XP_016879802.1

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