Hs01729431_cn

• Gene Symbol: THNSL2
• Assay Reference Genome Location: Chr.2:88186149 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 55258
• Gene Name: threonine synthase like 2
• Gene Aliases: SOFAT, THS2, TSH2
• Location: Chr.2:88170295-88186637 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
THNSL2	NM_001244676.1	9	1677	NP_001231605.1
	NM_001244678.1	6	1073	NP_001231607.1
	NM_018271.4	8	1493	NP_060741.3
	XM_005264400.4	9	1605	XP_005264457.1
	XM_005264401.4	9	1574	XP_005264458.1
	XM_005264403.4	7	3242	XP_005264460.1
	XM_005264405.4	7	3207	XP_005264462.1
	XM_006712041.3	8	3359	XP_006712104.1
	XM_006712044.3	5	2967	XP_006712107.1
	XM_011532954.2	7	3199	XP_011531256.1
	XM_011532955.2	8	1339	XP_011531257.1
	AI313402.1
	AK001778.1	8	1113	BAA91904.1
	AK092823.1	1	2375
	AK095303.1	8	3173
	AK289486.1	7	1173
	AK315831.1	6	999
	AL832746.1	5	873
	BC035315.1	8	1324	AAH35315.1
	BC047758.2	5	912	AAH47758.2
	BC064423.1	9	1574	AAH64423.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv61n16	Chr.2:87343737 - 90254660 on Build GRCh38	Deletion	IGKV3D-15 LOC101928371 IGKV1D-13 TEX37 FABP1 IGK IGKV3-20 SMYD1 FOXI3 EIF2AK3 PLGLB2 LOC101927050 IGKV2-26 IGKC LOC730268 LINC00152 IGKV2-29 IGKV2-24 LOC101928403 RGPD2 KRCC1 LOC107985911 THNSL2 IGKV1D-8 IGKV1-5 MIR4436A MIR4435-1 MIR4780 ANKRD36BP2 RPIA
dgv6947n54	Chr.2:87815738 - 88850700 on Build GRCh38	Gain	LOC101928403 RGPD2 KRCC1 LOC101928371 TEX37 THNSL2 FABP1 MIR4436A SMYD1 FOXI3 MIR4780 EIF2AK3 ANKRD36BP2 RPIA
nsv1072005	Chr.2:87360367 - 90256528 on Build GRCh38	Deletion	IGKV3D-15 LOC101928371 IGKV1D-13 TEX37 FABP1 IGK IGKV3-20 SMYD1 FOXI3 EIF2AK3 PLGLB2 LOC101927050 IGKV2-26 IGKC LOC730268 LINC00152 IGKV2-29 IGKV2-24 LOC101928403 RGPD2 KRCC1 LOC107985911 THNSL2 IGKV1D-8 IGKV1-5 MIR4436A MIR4435-1 MIR4780 ANKRD36BP2 RPIA
nsv834289	Chr.2:88083076 - 88251327 on Build GRCh38	Gain	SMYD1 THNSL2 FABP1
nsv1130752	Chr.2:87360364 - 90256525 on Build GRCh38	Deletion	IGKV3D-15 LOC101928371 IGKV1D-13 TEX37 FABP1 IGK IGKV3-20 SMYD1 FOXI3 EIF2AK3 PLGLB2 LOC101927050 IGKV2-26 IGKC LOC730268 LINC00152 IGKV2-29 IGKV2-24 LOC101928403 RGPD2 KRCC1 LOC107985911 THNSL2 IGKV1D-8 IGKV1-5 MIR4436A MIR4435-1 MIR4780 ANKRD36BP2 RPIA
nsv582384	Chr.2:87987149 - 88773214 on Build GRCh38	Loss	LOC101928403 RGPD2 KRCC1 LOC101928371 TEX37 THNSL2 FABP1 SMYD1 FOXI3 MIR4780 EIF2AK3 ANKRD36BP2 RPIA
nsv582386	Chr.2:88035188 - 89208087 on Build GRCh38	Loss	IGKV2-24 LOC101928403 KRCC1 LOC101928371 TEX37 THNSL2 FABP1 IGK IGKV1-5 MIR4436A IGKV3-20 SMYD1 FOXI3 MIR4780 EIF2AK3 IGKV2-26 IGKC ANKRD36BP2 RPIA
nsv582383	Chr.2:87915816 - 88527080 on Build GRCh38	Gain	SMYD1 RGPD2 FOXI3 KRCC1 MIR4780 TEX37 THNSL2 FABP1

More Information

Additional Information:

For this assay, SNP(s) [rs78594831] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process
serine family amino acid catabolic process
threonine biosynthetic process
dephosphorylation
2-oxobutyrate biosynthetic process

Function(s)

molecular_function
threonine synthase activity
cytokine activity
pyridoxal phosphate binding
serine binding