Hs06904547_cn

• Gene Symbol: SLC1A1
• Assay Reference Genome Location: Chr.9:4542587 on build GRCh38
• Cytoband: 9p24.2

Target Gene Details

• Entrez Gene ID: 6505
• Gene Name: solute carrier family 1 member 1
• Gene Aliases: DCBXA, EAAC1, EAAT3, SCZD18
• Location: Chr.9:4490427-4587469 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC1A1	NM_004170.5			NP_004161.4
	XM_011518007.1			XP_011516309.1
	XM_011518008.2			XP_011516310.1
	XM_011518009.2			XP_011516311.1
	XM_011518010.1			XP_011516312.1
	XM_017015042.1			XP_016870531.1
	XM_017015043.1			XP_016870532.1
	AB008536.1			BAB83767.1
	AK313013.1
	BC033040.1			AAH33040.1
	DA643262.1
	U03506.1			AAA50430.1
	U06469.1			AAA53215.1
	U08989.1			AAA68628.1

Target Gene Details

• Entrez Gene ID: 55064
• Gene Name: spermatogenesis associated 6 like
• Gene Aliases: C9orf68, bA6J24.2
• Location: Chr.9:4540092-4666674 on Build GRCh38
• Assay Gene Location: Within Intron 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA6L	XM_017014882.1			XP_016870371.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1016929	Chr.9:4219016 - 4545685 on Build GRCh38	Gain	SPATA6L GLIS3 SLC1A1
nsv1022870	Chr.9:4416046 - 4611901 on Build GRCh38	Loss	SPATA6L SLC1A1
esv2764162	Chr.9:4513839 - 4547412 on Build GRCh38	Loss	SPATA6L SLC1A1
nsv524574	Chr.9:4219259 - 4543307 on Build GRCh38	Gain	SPATA6L GLIS3 SLC1A1
nsv8407	Chr.9:4526442 - 4566030 on Build GRCh38	Loss	SPATA6L SLC1A1
nsv1022493	Chr.9:4490134 - 4604192 on Build GRCh38	Loss	SPATA6L SLC1A1

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

ion transport
chemical synaptic transmission
positive regulation of heart rate
glutamate secretion
cysteine transport
protein homooligomerization
L-glutamate import
D-aspartate import
L-glutamate transmembrane transport
cysteine transmembrane transport

Function(s)

L-glutamate transmembrane transporter activity
high-affinity glutamate transmembrane transporter activity
protein binding
amino acid transmembrane transporter activity
glutamate:sodium symporter activity
glutamate binding
cysteine transmembrane transporter activity