Product Details

SNP ID: rs137939858
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:102714932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCCTGAAAAGAAGGCTGGGGAAGA[C/G]GTTATCGCTGGGCCTGAGAGAGAGA
Phenotype: MIM: 300921
Polymorphism: C/G, 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	1139	Missense Mutation	GAC,GAG	D21E	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	1139	Missense Mutation	GAC,GAG	D21E	NP_001004051.1
NM_001184874.2	1139	Missense Mutation	GAC,GAG	D21E	NP_001171803.1
NM_001184875.2	1139	Missense Mutation	GAC,GAG	D21E	NP_001171804.1
NM_001184876.2	1139	Missense Mutation	GAC,GAG	D21E	NP_001171805.1
NM_138437.5	1139	Missense Mutation	GAC,GAG	D21E	NP_612446.1

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