Product Details

SNP ID

rs186678479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45396759 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGCCGGACCTTGCTCAAGTCGCT[C/T]TCCAGGCCCACGGGGCCCAGGGCGG

Phenotype

MIM: 610591

Polymorphism

C/T, 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	2383	Silent Mutation	GAA,GAG	E661E	NP_001269219.1
NM_174919.3	2383	Intron			NP_777579.2
NM_199282.2	2383	Silent Mutation	GAA,GAG	E320E	NP_954976.1
XM_005257128.3	2383	Silent Mutation	GAA,GAG	E439E	XP_005257185.1
XM_006721745.2	2383	Silent Mutation	GAA,GAG	E661E	XP_006721808.1
XM_006721747.2	2383	Silent Mutation	GAA,GAG	E639E	XP_006721810.1
XM_006721750.3	2383	Intron			XP_006721813.1
XM_011524468.1	2383	Silent Mutation	GAA,GAG	E694E	XP_011522770.1
XM_011524469.1	2383	Silent Mutation	GAA,GAG	E672E	XP_011522771.1
XM_011524470.2	2383	Silent Mutation	GAA,GAG	E694E	XP_011522772.1
XM_011524471.1	2383	Silent Mutation	GAA,GAG	E637E	XP_011522773.1
XM_011524472.2	2383	Silent Mutation	GAA,GAG	E494E	XP_011522774.1
XM_011524473.2	2383	Intron			XP_011522775.1
XM_011524474.1	2383	Silent Mutation	GAA,GAG	E353E	XP_011522776.1
XM_017024311.1	2383	Silent Mutation	GAA,GAG	E694E	XP_016879800.1
XM_017024312.1	2383	Silent Mutation	GAA,GAG	E461E	XP_016879801.1
XM_017024313.1	2383	Intron			XP_016879802.1

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