Product Details

SNP ID

rs11795137

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:88991607 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACTGCCGGGCCTCCCAGCCCATC[A/T]GGCATTCGAGCGCAGGACCGGGCGC

Phenotype

MIM: 601965

Polymorphism

A/T, Transversion 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	199	Silent Mutation	TCA,TCT	S128S	NP_001001938.1
NM_001142413.1	199	Silent Mutation	TCA,TCT	S109S	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	199	UTR 5			NP_005217.2

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