Product Details

SNP ID

rs28395809

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:48431231 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGTTATGGACTTGGAGGAGAGA[A/G]CCAAGAATGGAGTTATACGGGGGCA

Phenotype

MIM: 610585 MIM: 601158

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGAP22 PubMed Links

Gene Details

Gene

ARHGAP22

Gene Name

Rho GTPase activating protein 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256024.1	1331	Intron			NP_001242953.1
NM_001256025.2	1331	Intron			NP_001242954.1
NM_001256026.1	1331	Intron			NP_001242955.1
NM_021226.3	1331	Intron			NP_067049.2
XM_005270014.3	1331	Intron			XP_005270071.1
XM_011540002.1	1331	Intron			XP_011538304.1
XM_011540003.1	1331	Intron			XP_011538305.1
XM_011540004.1	1331	Intron			XP_011538306.1
XM_011540005.1	1331	Intron			XP_011538307.1
XM_011540006.1	1331	Intron			XP_011538308.1
XM_011540007.2	1331	Intron			XP_011538309.1
XM_011540011.2	1331	Intron			XP_011538313.1
XM_011540012.2	1331	Intron			XP_011538314.1
XM_011540013.2	1331	Intron			XP_011538315.1
XM_011540015.2	1331	Intron			XP_011538317.1
XM_017016470.1	1331	Intron			XP_016871959.1
XM_017016471.1	1331	Intron			XP_016871960.1
XM_017016472.1	1331	Intron			XP_016871961.1
XM_017016473.1	1331	Intron			XP_016871962.1
XM_017016474.1	1331	Intron			XP_016871963.1
XM_017016475.1	1331	Intron			XP_016871964.1
XM_017016476.1	1331	Intron			XP_016871965.1
XM_017016477.1	1331	Intron			XP_016871966.1

Gene

MAPK8

Gene Name

mitogen-activated protein kinase 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278547.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001265476.1
NM_001278548.1	1331	Missense Mutation	ACC,GCC	T291A	NP_001265477.1
NM_001323302.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310231.1
NM_001323320.1	1331	Missense Mutation	ACC,GCC	T291A	NP_001310249.1
NM_001323321.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310250.1
NM_001323322.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310251.1
NM_001323323.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310252.1
NM_001323324.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310253.1
NM_001323325.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310254.1
NM_001323326.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310255.1
NM_001323327.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310256.1
NM_001323328.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310257.1
NM_001323329.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310258.1
NM_001323330.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310259.1
NM_001323331.1	1331	Missense Mutation	ACC,GCC	T367A	NP_001310260.1
NM_139046.3	1331	Missense Mutation	ACC,GCC	T367A	NP_620634.1
NM_139049.3	1331	Missense Mutation	ACC,GCC	T367A	NP_620637.1

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