Product Details

SNP ID

rs147673874

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:48434998 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGATACAGACAGCAGTCTAGAAG[C/T]AGCAGCTGGGCCTCTGGGCTGCTGT

Phenotype

MIM: 610585 MIM: 601158

Polymorphism

C/T, 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	1485	Intron			NP_001242953.1
NM_001256025.2	1485	Intron			NP_001242954.1
NM_001256026.1	1485	Intron			NP_001242955.1
NM_021226.3	1485	Intron			NP_067049.2
XM_005270014.3	1485	Intron			XP_005270071.1
XM_011540002.1	1485	Intron			XP_011538304.1
XM_011540003.1	1485	Intron			XP_011538305.1
XM_011540004.1	1485	Intron			XP_011538306.1
XM_011540005.1	1485	Intron			XP_011538307.1
XM_011540006.1	1485	Intron			XP_011538308.1
XM_011540007.2	1485	Intron			XP_011538309.1
XM_011540011.2	1485	Intron			XP_011538313.1
XM_011540012.2	1485	Intron			XP_011538314.1
XM_011540013.2	1485	Intron			XP_011538315.1
XM_011540015.2	1485	Intron			XP_011538317.1
XM_017016470.1	1485	Intron			XP_016871959.1
XM_017016471.1	1485	Intron			XP_016871960.1
XM_017016472.1	1485	Intron			XP_016871961.1
XM_017016473.1	1485	Intron			XP_016871962.1
XM_017016474.1	1485	Intron			XP_016871963.1
XM_017016475.1	1485	Intron			XP_016871964.1
XM_017016476.1	1485	Intron			XP_016871965.1
XM_017016477.1	1485	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	1485	Missense Mutation	GCA,GTA	A418V	NP_001265476.1
NM_001278548.1	1485	UTR 3			NP_001265477.1
NM_001323302.1	1485	UTR 3			NP_001310231.1
NM_001323320.1	1485	Missense Mutation	GCA,GTA	A342V	NP_001310249.1
NM_001323321.1	1485	UTR 3			NP_001310250.1
NM_001323322.1	1485	Missense Mutation	GCA,GTA	A418V	NP_001310251.1
NM_001323323.1	1485	Missense Mutation	GCA,GTA	A418V	NP_001310252.1
NM_001323324.1	1485	UTR 3			NP_001310253.1
NM_001323325.1	1485	UTR 3			NP_001310254.1
NM_001323326.1	1485	UTR 3			NP_001310255.1
NM_001323327.1	1485	UTR 3			NP_001310256.1
NM_001323328.1	1485	Missense Mutation	GCA,GTA	A418V	NP_001310257.1
NM_001323329.1	1485	Missense Mutation	GCA,GTA	A418V	NP_001310258.1
NM_001323330.1	1485	Missense Mutation	GCA,GTA	A418V	NP_001310259.1
NM_001323331.1	1485	Missense Mutation	GCA,GTA	A418V	NP_001310260.1
NM_139046.3	1485	UTR 3			NP_620634.1
NM_139049.3	1485	Missense Mutation	GCA,GTA	A418V	NP_620637.1

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