Product Details

SNP ID
rs200058769
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:102715310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCACAGGCAGAAGGAGTGTCCCA[G/T]ACTAATGCCGTTGCTTGGCCACTGG
Phenotype
MIM: 300921
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
ARMCX5-GPRASP2 PubMed Links

Gene Details

Gene
ARMCX5-GPRASP2
Gene Name
ARMCX5-GPRASP2 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199818.1 1517 Missense Mutation CAG,CAT Q147H NP_001186747.1
Gene
BHLHB9
Gene Name
basic helix-loop-helix domain containing, class B, 9
There are no transcripts associated with this gene.

Gene
GPRASP2
Gene Name
G protein-coupled receptor associated sorting protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001004051.3 1517 Missense Mutation CAG,CAT Q147H NP_001004051.1
NM_001184874.2 1517 Missense Mutation CAG,CAT Q147H NP_001171803.1
NM_001184875.2 1517 Missense Mutation CAG,CAT Q147H NP_001171804.1
NM_001184876.2 1517 Missense Mutation CAG,CAT Q147H NP_001171805.1
NM_138437.5 1517 Missense Mutation CAG,CAT Q147H NP_612446.1

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