Product Details

SNP ID
rs77871416
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:88991954 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAAAGTGGAGAGGCTGTTCGTGG[A/G]GAAGTTCCATCAGTCGTTTTCCTTG
Phenotype
MIM: 601965
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C9orf47 PubMed Links

Gene Details

Gene
C9orf47
Gene Name
chromosome 9 open reading frame 47
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001938.3 708 Missense Mutation GAG,GGG E192G NP_001001938.1
NM_001142413.1 708 Missense Mutation GAG,GGG E173G NP_001135885.1
Gene
S1PR3
Gene Name
sphingosine-1-phosphate receptor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005226.3 708 Intron NP_005217.2

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