Product Details

SNP ID

rs139504725

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:156937269 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACCTTGAGCCTGTTGAGCTTGA[A/G]AGTGAGCTGCTCAATGGTATGGAAG

Phenotype

MIM: 605708

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGEF11 PubMed Links

Gene Details

Gene

ARHGEF11

Gene Name

Rho guanine nucleotide exchange factor 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014784.3	3928	Missense Mutation	CTC,TTC	L1434F	NP_055599.1
NM_198236.2	3928	Missense Mutation	CTC,TTC	L1474F	NP_937879.1
XM_005245629.4	3928	Missense Mutation	CTC,TTC	L1475F	XP_005245686.1
XM_005245633.4	3928	Missense Mutation	CTC,TTC	L1053F	XP_005245690.1
XM_006711659.2	3928	Missense Mutation	CTC,TTC	L1491F	XP_006711722.1
XM_006711660.3	3928	Missense Mutation	CTC,TTC	L1490F	XP_006711723.1
XM_006711661.2	3928	Missense Mutation	CTC,TTC	L1481F	XP_006711724.1
XM_006711662.2	3928	Missense Mutation	CTC,TTC	L1480F	XP_006711725.1
XM_006711663.3	3928	Missense Mutation	CTC,TTC	L1471F	XP_006711726.1
XM_006711665.3	3928	Missense Mutation	CTC,TTC	L1450F	XP_006711728.1
XM_011510185.2	3928	Missense Mutation	CTC,TTC	L1486F	XP_011508487.1
XM_011510186.2	3928	Missense Mutation	CTC,TTC	L1451F	XP_011508488.1
XM_011510187.2	3928	Missense Mutation	CTC,TTC	L1397F	XP_011508489.1
XM_011510189.2	3928	Missense Mutation	CTC,TTC	L857F	XP_011508491.1
XM_017002920.1	3928	Missense Mutation	CTC,TTC	L1480F	XP_016858409.1
XM_017002921.1	3928	Missense Mutation	CTC,TTC	L1464F	XP_016858410.1
XM_017002922.1	3928	Missense Mutation	CTC,TTC	L1440F	XP_016858411.1
XM_017002923.1	3928	Missense Mutation	CTC,TTC	L1435F	XP_016858412.1
XM_017002924.1	3928	Missense Mutation	CTC,TTC	L1435F	XP_016858413.1

Gene

LRRC71

Gene Name

leucine rich repeat containing 71

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144702.2	3928	Intron			NP_653303.2
XM_005244926.3	3928	Intron			XP_005244983.1
XM_005244927.3	3928	Intron			XP_005244984.1
XM_005244928.2	3928	Intron			XP_005244985.1
XM_006711185.3	3928	Intron			XP_006711248.1
XM_006711186.3	3928	Intron			XP_006711249.1
XM_006711187.3	3928	Intron			XP_006711250.1
XM_011509239.2	3928	Intron			XP_011507541.1
XM_011509240.2	3928	Intron			XP_011507542.1
XM_011509241.2	3928	Intron			XP_011507543.1
XM_017000459.1	3928	Intron			XP_016855948.1
XM_017000460.1	3928	Intron			XP_016855949.1
XM_017000461.1	3928	Intron			XP_016855950.1
XM_017000462.1	3928	Intron			XP_016855951.1

Gene

MIR765

Gene Name

microRNA 765

There are no transcripts associated with this gene.

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