Product Details

SNP ID
rs201424206
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:31807737 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTACACAGTATGAACTGCTATA[A/T]TACCAGTCTCTTTTTCTGGTTTTAA
Phenotype
MIM: 610577
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP12 PubMed Links

Gene Details

Gene
ARHGAP12
Gene Name
Rho GTPase activating protein 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270695.1 2544 Missense Mutation AAT,ATT N816I NP_001257624.1
NM_001270696.1 2544 Missense Mutation AAT,ATT N791I NP_001257625.1
NM_001270697.1 2544 Missense Mutation AAT,ATT N774I NP_001257626.1
NM_001270698.1 2544 Missense Mutation AAT,ATT N744I NP_001257627.1
NM_001270699.1 2544 Missense Mutation AAT,ATT N769I NP_001257628.1
NM_018287.6 2544 Missense Mutation AAT,ATT N821I NP_060757.4
XM_005252644.1 2544 Missense Mutation AAT,ATT N769I XP_005252701.1
XM_011519761.1 2544 Missense Mutation AAT,ATT N747I XP_011518063.1
XM_017016954.1 2544 Missense Mutation AAT,ATT N717I XP_016872443.1

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