Product Details

SNP ID

rs201448609

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45440186 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGTTGGAGGTCAGCAACACTGA[A/G]CCTATGCGGAGATTCCAAGAGATAA

Phenotype

MIM: 610591 MIM: 611466

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP27 PubMed Links

Gene Details

Gene

ARHGAP27

Gene Name

Rho GTPase activating protein 27

There are no transcripts associated with this gene.

Gene

PLEKHM1

Gene Name

pleckstrin homology and RUN domain containing M1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014798.2	2751	Missense Mutation	CTC,TTC	L960F	NP_055613.1
XM_006722201.3	2751	Missense Mutation	CTC,TTC	L830F	XP_006722264.1
XM_011525523.2	2751	Intron			XP_011523825.1
XM_011525524.1	2751	Missense Mutation	CTC,TTC	L960F	XP_011523826.1
XM_011525525.1	2751	Missense Mutation	CTC,TTC	L909F	XP_011523827.1
XM_011525526.1	2751	Missense Mutation	CTC,TTC	L893F	XP_011523828.1
XM_011525528.2	2751	Missense Mutation	CTC,TTC	L439F	XP_011523830.1
XM_017025451.1	2751	Missense Mutation	CTC,TTC	L960F	XP_016880940.1
XM_017025452.1	2751	Missense Mutation	CTC,TTC	L871F	XP_016880941.1
XM_017025453.1	2751	Missense Mutation	CTC,TTC	L830F	XP_016880942.1
XM_017025454.1	2751	Missense Mutation	CTC,TTC	L435F	XP_016880943.1

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