Hs01438914_cn

• Gene Symbol: NT5C1B
• Assay Reference Genome Location: Chr.2:18576282 on build GRCh38
• Cytoband: 2p24.2

Target Gene Details

• Entrez Gene ID: 93034
• Gene Name: 5'-nucleotidase, cytosolic IB
• Gene Aliases: AIRP, CN-IB, CN1B
• Location: Chr.2:18562871-18589580 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NT5C1B	NM_001002006.2	9	1523	NP_001002006.1
	NM_001199086.1	9	1472	NP_001186015.1
	NM_001199087.1	9	1574	NP_001186016.1
	NM_001199088.1	9	1529	NP_001186017.1
	NM_033253.3	8	1343	NP_150278.2
	AF352326.1	4	481	AAK83285.1
	AF356185.1	8	1277	AAK39108.1
	AF417165.1	9	1489	AAL11910.1
	AJ295254.1	4	439	CAC44363.1
	AK093234.1	5	626	BAC04103.1
	AK093464.1	8	1268	BAC04174.1
	AK097422.1	8	1332
	AK302084.1	8	1289
	AK302200.1	9	1418
	AK302795.1	9	1558
	BC136387.1	8	1296
	BC171761.1	8	1296

Target Gene Details

• Entrez Gene ID: 100526794
• Gene Name: NT5C1B-RDH14 readthrough
• Gene Aliases: -
• Location: Chr.2:18554723-18589580 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NT5C1B-RDH14	NM_001199103.1	8	1349	NP_001186032.1
	NM_001199104.1	9	1523	NP_001186033.1
	AK057444.1	9	1505	BAB71489.1
	AK307653.1	8	1333

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3589967	Chr.2:18572204 - 18580279 on Build GRCh38	Loss	NT5C1B NT5C1B-RDH14
esv2751837	Chr.2:18240747 - 18831848 on Build GRCh38	Gain	NT5C1B RDH14 NT5C1B-RDH14
nsv581114	Chr.2:18200727 - 18615490 on Build GRCh38	Gain	NT5C1B RDH14 NT5C1B-RDH14
nsv519085	Chr.2:18574386 - 18709413 on Build GRCh38	Loss	NT5C1B NT5C1B-RDH14

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

purine nucleotide catabolic process
dephosphorylation

Function(s)

nucleotide binding
magnesium ion binding
5'-nucleotidase activity