Hs03962555_cn

• Gene Symbol: SAP30BP
• Assay Reference Genome Location: Chr.17:75673309 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 29115
• Gene Name: SAP30 binding protein
• Gene Aliases: HCNGP, HTRG, HTRP
• Location: Chr.17:75667116-75708062 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAP30BP	NM_001301839.1			NP_001288768.1
	NM_001301855.1			NP_001288784.1
	NM_013260.7			NP_037392.1
	NR_126036.1
	NR_126037.1
	XM_011524693.2			XP_011522995.1
	XM_011524694.2			XP_011522996.1
	XM_011524695.2			XP_011522997.1
	XM_017024545.1			XP_016880034.1
	XM_017024546.1			XP_016880035.1
	XM_017024547.1			XP_016880036.1
	XM_017024548.1			XP_016880037.1
	XM_017024549.1			XP_016880038.1
	XM_017024550.1			XP_016880039.1
	AF087869.1			AAM10497.1
	AF119664.1			AAF17221.1
	AF450482.1			AAL47177.1
	AK002202.1
	AK023157.1
	AK095265.1			BAC04514.1
	AK298060.1
	AK310177.1
	AY082382.1			AAL92491.1
	BC007592.1			AAH07592.1
	BC013409.2			AAH13409.2
	BC030233.1			AAH30233.1
	BC063793.1			AAH63793.1
	BM807177.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833544	Chr.17:75595541 - 75771639 on Build GRCh38	Loss	ITGB4 SAP30BP RECQL5 MYO15B SMIM6 GALK1 SMIM5
nsv470603	Chr.17:75468213 - 75741366 on Build GRCh38	Loss	CASKIN2 ITGB4 SAP30BP TMEM94 MIR6785 LLGL2 RECQL5 MYO15B SMIM6 TSEN54 SMIM5
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	CASKIN2 ITGB4 SAP30BP TMEM94 MIR6785 LLGL2 RECQL5 MYO15B SMIM6 GALK1 TSEN54 SMIM5
nsv576027	Chr.17:75249939 - 75750289 on Build GRCh38	Gain	CASKIN2 ITGB4 TMEM94 MIR6785 MIR3678 MYO15B GGA3 SLC25A19 MIF4GD MRPS7 SAP30BP LLGL2 RECQL5 SMIM6 TSEN54 GRB2 LOC100287042 SMIM5
nsv833543	Chr.17:75517604 - 75692749 on Build GRCh38	Loss	SAP30BP LLGL2 RECQL5 MYO15B SMIM6 TSEN54 SMIM5

More Information

Additional Information:

For this assay, SNP(s) [rs73995962] 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 -

DNA-binding transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
apoptotic process
positive regulation of cell death

Function(s)

protein binding