Product Details

SNP ID: rs201409000
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:102715915 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTGCCTGGAGAAGAGGCCAATAGTA[G/T]ATTCAGGCACAGAGACAAAGAAGAT
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	2122	Missense Mutation	AGA,ATA	R349I	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	2122	Missense Mutation	AGA,ATA	R349I	NP_001004051.1
NM_001184874.2	2122	Missense Mutation	AGA,ATA	R349I	NP_001171803.1
NM_001184875.2	2122	Missense Mutation	AGA,ATA	R349I	NP_001171804.1
NM_001184876.2	2122	Missense Mutation	AGA,ATA	R349I	NP_001171805.1
NM_138437.5	2122	Missense Mutation	AGA,ATA	R349I	NP_612446.1

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