Product Details

SNP ID
rs139058246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:153907892 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGGAGAGGTGGTAGATGCTGGC[C/T]CAAGGCCCTGGCGGACAGAGGTCTT
Phenotype
MIM: 300023 MIM: 300538
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARHGAP4 PubMed Links

Gene Details

Gene
ARHGAP4
Gene Name
Rho GTPase activating protein 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164741.1 2856 Missense Mutation GAG,GGG E933G NP_001158213.1
NM_001666.4 2856 Missense Mutation GAG,GGG E893G NP_001657.3
Gene
AVPR2
Gene Name
arginine vasopressin receptor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000054.4 2856 Intron NP_000045.1
NM_001146151.1 2856 Intron NP_001139623.1
XM_006724828.3 2856 Intron XP_006724891.1

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