Product Details

SNP ID

rs143562975

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65570892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGCTTTTTGGTCCGTAGACGATC[A/C]TCCTCCAAGACAAACAGCGGAAAAT

Phenotype

MIM: 616128 MIM: 606044

Polymorphism

A/C, 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

There are no transcripts associated with this gene.

Gene

SSSCA1

Gene Name

Sjogren syndrome/scleroderma autoantigen 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303024.1	304	Missense Mutation	ATC,CTC	I23L	NP_001289953.1
NM_006396.2	304	Missense Mutation	ATC,CTC	I60L	NP_006387.1

Gene

SSSCA1-AS1

Gene Name

SSSCA1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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