Hs03457387_cn

• Gene Symbol: SLC51A
• Assay Reference Genome Location: Chr.3:196222884 on build GRCh38
• Cytoband: 3q29

Target Gene Details

• Entrez Gene ID: 200931
• Gene Name: solute carrier family 51 alpha subunit
• Gene Aliases: OSTA, OSTalpha
• Location: Chr.3:196216512-196233430 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC51A	NM_152672.5			NP_689885.4
	AK172837.1			BAD18802.1
	AK300996.1
	AY194243.1			AAP23993.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv10387	Chr.3:196222152 - 196225301 on Build GRCh38	Loss	SLC51A
nsv593073	Chr.3:196222670 - 196223305 on Build GRCh38	Loss	SLC51A
esv3563176	Chr.3:196222370 - 196224477 on Build GRCh38	Deletion	SLC51A
esv3599275	Chr.3:196222344 - 196224428 on Build GRCh38	Loss	SLC51A
esv26725	Chr.3:196222740 - 196223813 on Build GRCh38	Loss	SLC51A
esv2759213	Chr.3:195382058 - 196344722 on Build GRCh38	Gain+Loss	TM4SF19 TM4SF19-TCTEX1D2 SDHAP2 LINC00885 LOC101929697 MIR570 LOC105374301 LINC00969 SLC51A ZDHHC19 LOC105374299 TM4SF19-AS1 MUC20 ACAP2 PPP1R2 MUC4 TNK2 TFRC SDHAP1 TCTEX1D2 PCYT1A MIR6829 LOC105374297 APOD
esv2668764	Chr.3:196222306 - 196224527 on Build GRCh38	Deletion	SLC51A
nsv997797	Chr.3:195931489 - 196486087 on Build GRCh38	Gain	TM4SF19 TM4SF19-TCTEX1D2 LINC00885 UBXN7-AS1 LOC105374301 SLC51A ZDHHC19 TM4SF19-AS1 UBXN7 TFRC SDHAP1 TCTEX1D2 PCYT1A RNF168
nsv593072	Chr.3:196219664 - 196223619 on Build GRCh38	Loss	SLC51A
esv3569221	Chr.3:196209781 - 196229993 on Build GRCh38	Loss	SLC51A ZDHHC19
nsv1009811	Chr.3:196124925 - 196411200 on Build GRCh38	Gain	TM4SF19 TM4SF19-AS1 TM4SF19-TCTEX1D2 LINC00885 UBXN7 TCTEX1D2 PCYT1A SLC51A ZDHHC19
nsv593071	Chr.3:196132016 - 196345571 on Build GRCh38	Gain	TM4SF19 TM4SF19-AS1 TM4SF19-TCTEX1D2 LINC00885 TCTEX1D2 PCYT1A SLC51A ZDHHC19
nsv1008512	Chr.3:195982791 - 196248065 on Build GRCh38	Gain	LINC00885 LOC105374301 TFRC SDHAP1 PCYT1A SLC51A ZDHHC19

More Information

Additional Information:

For this assay, SNP(s) [rs79398212] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

transport
bile acid and bile salt transport

Function(s)

transporter activity
protein homodimerization activity
protein heterodimerization activity