Product Details

SNP ID
rs41307379
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:102602496 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGCCTATGTCTAGGGTCAGTACT[G/T]TAACCAAGTCTGAAGTCAAGGTTGT
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ARMCX5 PubMed Links

Gene Details

Gene
ARMCX5
Gene Name
armadillo repeat containing, X-linked 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168478.1 1013 Missense Mutation GTA,TTA V119L NP_001161950.1
NM_001168479.1 1013 Missense Mutation GTA,TTA V119L NP_001161951.1
NM_001168480.1 1013 Missense Mutation GTA,TTA V119L NP_001161952.1
NM_001168482.1 1013 Missense Mutation GTA,TTA V119L NP_001161954.1
NM_001168485.1 1013 Missense Mutation GTA,TTA V119L NP_001161957.1
NM_022838.3 1013 Missense Mutation GTA,TTA V119L NP_073749.2
Gene
ARMCX5-GPRASP2
Gene Name
ARMCX5-GPRASP2 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199818.1 1013 Intron NP_001186747.1

View Full Product Details