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SNP ID: rs200288509
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:65573401 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTTGGACATGTCCTTGTTGTGCCA[C/G]CTGTGGGGCCTGTACGAGTCAATCC
Phenotype: MIM: 616128 MIM: 606044
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: EHBP1L1 PubMed Links

Gene Details

Gene: EHBP1L1
Gene Name: EH domain binding protein 1 like 1

There are no transcripts associated with this gene.

Gene: FAM89B
Gene Name: family with sequence similarity 89 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098784.1	651	Missense Mutation	CCT,GCT	P114A	NP_001092254.1
NM_001098785.1	651	Missense Mutation	CAC,CAG	H110Q	NP_001092255.1
NM_152832.2	651	Intron			NP_690045.1

Gene: SSSCA1
Gene Name: Sjogren syndrome/scleroderma autoantigen 1

There are no transcripts associated with this gene.

Gene: SSSCA1-AS1
Gene Name: SSSCA1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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