Product Details

SNP ID
rs148642961
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57489089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGGATAGCGGCAACTACCTCTT[A/C]TCCACTAGTGCAATCTGCCGGTCAG
Phenotype
MIM: 610576 MIM: 156560
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP9 PubMed Links

Gene Details

Gene
ARHGAP9
Gene Name
Rho GTPase activating protein 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080156.2 229 Intron NP_001073625.1
NM_001080157.1 229 Intron NP_001073626.1
NM_001319850.1 229 Intron NP_001306779.1
NM_001319851.1 229 Intron NP_001306780.1
NM_001319852.1 229 Intron NP_001306781.1
NM_032496.3 229 Intron NP_115885.2
XM_005269083.2 229 Intron XP_005269140.1
XM_005269084.2 229 Intron XP_005269141.1
XM_005269085.2 229 Intron XP_005269142.1
XM_011538656.2 229 Intron XP_011536958.1
XM_011538657.2 229 Intron XP_011536959.1
XM_011538658.2 229 Intron XP_011536960.1
XM_011538659.2 229 Intron XP_011536961.1
XM_017019800.1 229 Intron XP_016875289.1
XM_017019801.1 229 Intron XP_016875290.1
XM_017019802.1 229 Intron XP_016875291.1
XM_017019803.1 229 Intron XP_016875292.1
XM_017019804.1 229 Intron XP_016875293.1
Gene
MARS
Gene Name
methionyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004990.3 229 Missense Mutation TTA,TTC L60F NP_004981.2
XM_006719398.3 229 UTR 5 XP_006719461.1

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