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See other ACP1 CNV Assays ›
Gene Symbol
ACP1
Assay Reference Genome
Location

Chr.2:273603 on build GRCh38
Cytoband
Assay ID Hs04230740_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 52

Gene Name:

 acid phosphatase 1

Gene Aliases:

 HAAP, LMW-PTP, LMWPTP

Location:

 Chr.2:264947-278283 on Build GRCh38

Assay Gene Location:

 Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ACP1 NM_004300.4 NP_004291.1
NM_007099.4 NP_009030.1
NR_024080.2
AB209838.1 BAD93075.1
AK289934.1 BAF82623.1
AK291861.1 BAF84550.1
BC007422.2 AAH07422.1
BC106011.1 AAI06012.1
BI460080.1
BJ992018.1
BT007136.1 AAP35800.1
DB443811.1
M87545.1
S62884.1 AAB27085.1
Y16846.1 CAA76416.1

Target Gene Details

Entrez Gene ID:

 7840

Gene Name:

 ALMS1 centrosome and basal body associated protein

Gene Aliases:

 ALSS

Location:

 Chr.2:55253-279417 on Build GRCh38

Assay Gene Location:
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ALMS1

Target Gene Details

Entrez Gene ID:

 728378

Gene Name:

 POTE ankyrin domain family member F

Gene Aliases:

 A26C1B, ACTB, POTE2alpha, POTEACTIN

Location:

 Chr.2:241401-305918 on Build GRCh38

Assay Gene Location:
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
POTEF

Target Gene Details

Entrez Gene ID:

 54884

Gene Name:

 retinol saturase

Gene Aliases:

 -

Location:

 Chr.2:268195-280766 on Build GRCh38

Assay Gene Location:
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RETSAT

Target Gene Details

Entrez Gene ID:

 6295

Gene Name:

 S-antigen visual arrestin

Gene Aliases:

 RP47, RP96, S-AG

Location:

 Chr.2:253154-292393 on Build GRCh38

Assay Gene Location:
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SAG

Target Gene Details

Entrez Gene ID:

 8604

Gene Name:

 solute carrier family 25 member 12

Gene Aliases:

 AGC1, ARALAR, DEE39, EIEE39

Location:

 Chr.2:213578-324837 on Build GRCh38

Assay Gene Location:
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SLC25A12

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3589598 Chr.2:250064 - 298533 on Build GRCh38 Gain ACP1 ELMOD3 POTEF IGKV2-24 TRIM51JP SLC25A12 ALMS1 SH3YL1 IGK SNORA41 SNORD51 ALKAL2 SAG RETSAT TGOLN2 LOC100506076 IGKV3-20 NDUFS1 CMKLR2 EEF1B2 LOC105373346
esv3589599 Chr.2:251988 - 283726 on Build GRCh38 Gain ACP1 ELMOD3 POTEF TRIM51JP SLC25A12 ALMS1 SH3YL1 IGK SNORA41 SNORD51 ALKAL2 SAG RETSAT TGOLN2 LOC100506076 NDUFS1 EEF1B2
dgv3698n100 Chr.2:265970 - 313392 on Build GRCh38 Gain ACP1 ANKRD33BP1 NAT8 ELMOD3 POTEF CMKLR2-AS LINC03052 IGKV2-24 SLC25A12 ALMS1 IGK DGKD SNORA41 SNORD51 ALKAL2 MED15P9 SAG RETSAT LOC100506076 IGKV2-26 NDUFS1 CMKLR2 EEF1B2 LOC105373346
nsv833159 Chr.2:158491 - 327294 on Build GRCh38 Loss ACP1 FAR2P1 ANKRD36 ALMS1 SH3YL1 ALKAL2 SAG RETSAT SCARNA6 FAHD2A LOC100506076 IGKV2-26 IGKV3-20 NDUFS1 CMKLR2 TPO TRIM43 ALMS1P1 DYNC1I2 ELMOD3 LINC03052 TRIM51JP TCF7L1 LINC01865 IGK LINC01881 SNORA41 INO80D INO80D-AS1 LALTOP ATG16L1 CMKLR2-AS IGKV2-24 SNORD51 MED15P9 TGOLN2 LOC124905368 LOC105373346 GCSHP3 TRIM64FP ANKRD33BP1 NAT8 POTEF SLC25A12 DGKD NDUFA10 SCARNA5 TDRD15 CCDC74B EEF1B2
nsv4052979 Chr.2:10001 - 590000 on Build GRCh38 Deletion FAR2P1 ANKRD36 TWIST2 CRYGD TRAPPC12-AS1 FAHD2A MIR3606 LOC100506076 IGKV2-26 IGKV3-20 TPO IGKV2-29 LINC01856 LINC03100 TCF7L1-IT1 SNTG2 COL3A1 TCF7L1 LINC01865 IGK NAT8B INO80D-AS1 LINC01822 TUBA3E FAHD2B RAB6C-AS1 LINC02572 GPAT2P2 LOC102724579 ATG16L1 G6PC2 NOC2LP1 SNORD51 ADI1 APPAT MED15P9 TGOLN2 ZDBF2 TPRKB FAM240C LOC124905368 LOC285097 GAL3ST2 NEU4 LOC105373346 TRIM64FP ANKRD33BP1 CRYGC PLAC9P1 GPAT2 SLC25A12 TRAPPC12 SPC25 SCARNA5 NOSTRIN LINC01874 LOC101926959 LOC124905962 EEF1B2 ALMS1-IT1 ACP1 INPP5D RTP5 MIR4784 LINC03124 RAB6C ALMS1 SH3YL1 HAT1 ALKAL2 SAG RETSAT SCARNA6 LOC105373352 NDUFS1 CMKLR2 TRIM43 ALMS1P1 DYNC1I2 METAP1D ELMOD3 C2orf92 LINC03052 TRIM51JP MZT2B ANKRD36B LINC01115 ABCB11 LINC01881 DLX1 SNORA41 INO80D IGKV1-5 C2orf78 LINC01238 LALTOP KCNIP3 PDCD1 COX5B LINC01237 LOC100996637 CMKLR2-AS IGKV2-24 PROM2 LINC01880 TRIM43B DUSP11 SMPD4 CDRT15P3 KIF5C ACTR1B GCSHP3 NAT8 APOB POTEF DGKD LOC100507443 NDUFA10 MIR1245B TDRD15 LOC100287387 LINC01875 MIR1245A CCDC74B FAM110C LOC150935
nsv6316255 Chr.2:27263 - 377948 on Build GRCh38 Duplication FAR2P1 ANKRD36 TWIST2 CRYGD TRAPPC12-AS1 FAHD2A MIR3606 LOC100506076 IGKV2-26 IGKV3-20 TPO IGKV2-29 LINC01856 LINC03100 TCF7L1-IT1 SNTG2 COL3A1 TCF7L1 LINC01865 IGK NAT8B INO80D-AS1 LINC01822 TUBA3E FAHD2B RAB6C-AS1 LINC02572 GPAT2P2 LOC102724579 ATG16L1 G6PC2 SNORD51 ADI1 MED15P9 TGOLN2 FAM240C LOC124905368 LOC285097 NEU4 LOC105373346 TRIM64FP ANKRD33BP1 CRYGC PLAC9P1 GPAT2 SLC25A12 TRAPPC12 SPC25 SCARNA5 NOSTRIN EEF1B2 ALMS1-IT1 ACP1 INPP5D RTP5 MIR4784 LINC03124 RAB6C ALMS1 SH3YL1 HAT1 ALKAL2 SAG RETSAT SCARNA6 NDUFS1 CMKLR2 TRIM43 ALMS1P1 DYNC1I2 ELMOD3 LINC03052 TRIM51JP MZT2B LINC01115 ABCB11 LINC01881 SNORA41 INO80D IGKV1-5 LALTOP KCNIP3 PDCD1 LINC01237 CMKLR2-AS IGKV2-24 PROM2 LINC01880 TRIM43B SMPD4 CDRT15P3 KIF5C GCSHP3 NAT8 APOB POTEF DGKD LOC100507443 NDUFA10 MIR1245B TDRD15 LOC100287387 MIR1245A CCDC74B FAM110C LOC150935
nsv6321644 Chr.2:214401 - 293900 on Build GRCh38 Duplication ACP1 ATG16L1 FAR2P1 IGKV2-24 ANKRD36 ALMS1 SH3YL1 SNORD51 ALKAL2 SAG RETSAT SCARNA6 TGOLN2 LOC100506076 IGKV3-20 NDUFS1 CMKLR2 TPO TRIM43 LOC105373346 GCSHP3 ELMOD3 POTEF TRIM51JP SLC25A12 TCF7L1 IGK SNORA41 SCARNA5 EEF1B2
nsv6321692 Chr.2:264180 - 313687 on Build GRCh38 Duplication ACP1 CMKLR2-AS IGKV2-24 ALMS1 SH3YL1 SNORD51 ALKAL2 MED15P9 SAG RETSAT LOC100506076 IGKV2-26 NDUFS1 CMKLR2 LOC105373346 ANKRD33BP1 NAT8 ELMOD3 POTEF LINC03052 SLC25A12 IGK DGKD SNORA41 EEF1B2
nsv4059558 Chr.2:56853 - 309597 on Build GRCh38 Duplication ACP1 INPP5D RTP5 LINC03124 FAR2P1 ANKRD36 RAB6C ALMS1 SH3YL1 TWIST2 CRYGD ALKAL2 TRAPPC12-AS1 SAG RETSAT SCARNA6 FAHD2A MIR3606 LOC100506076 IGKV2-26 IGKV3-20 NDUFS1 CMKLR2 TPO TRIM43 LINC01856 LINC03100 TCF7L1-IT1 DYNC1I2 ELMOD3 SNTG2 TRIM51JP COL3A1 TCF7L1 IGK LINC01115 ABCB11 LINC01881 SNORA41 INO80D INO80D-AS1 FAHD2B RAB6C-AS1 LALTOP KCNIP3 PDCD1 GPAT2P2 LOC102724579 LINC01237 ATG16L1 IGKV2-24 G6PC2 LINC01880 SNORD51 ADI1 MED15P9 TGOLN2 CDRT15P3 KIF5C FAM240C LOC124905368 LOC105373346 GCSHP3 CRYGC APOB PLAC9P1 POTEF GPAT2 SLC25A12 TRAPPC12 SPC25 DGKD LOC100507443 NDUFA10 SCARNA5 MIR1245B TDRD15 LOC100287387 MIR1245A LOC150935 EEF1B2 ALMS1-IT1
esv2759016 Chr.2:167949 - 929902 on Build GRCh38 Gain TMEM18-DT ACP1 MIR4784 FAR2P1 ANKRD36 ALMS1 SH3YL1 HAT1 ALKAL2 SAG TMEM131 RETSAT SCARNA6 FAHD2A LOC100506076 LOC105373352 IGKV2-26 IGKV3-20 NDUFS1 CMKLR2 TPO IGKV2-29 TRIM43 ALMS1P1 DYNC1I2 METAP1D ELMOD3 C2orf92 LINC03052 TRIM51JP MZT2B ANKRD36B TCF7L1 LINC01865 IGK LINC01115 DLX1 NAT8B SNORA41 INO80D INO80D-AS1 ZAP70 TUBA3E C2orf78 LALTOP COX5B LOC100996637 ATG16L1 CMKLR2-AS IGKV2-24 NOC2LP1 LOC105373480 SNORD51 APPAT MED15P9 LINC01939 TRIM43B DUSP11 TGOLN2 SMPD4 ZDBF2 TPRKB ACTR1B LOC124905368 LOC105373346 GCSHP3 TRIM64FP ANKRD33BP1 NAT8 TMEM18 POTEF SLC25A12 DGKD NDUFA10 SCARNA5 TDRD15 LINC01875 CCDC74B LINC01874 LOC101926959 LOC124905962 EEF1B2
nsv5442514 Chr.2:252077 - 294598 on Build GRCh38 Duplication ACP1 ELMOD3 POTEF IGKV2-24 TRIM51JP SLC25A12 ALMS1 SH3YL1 IGK SNORA41 SNORD51 ALKAL2 SAG RETSAT TGOLN2 LOC100506076 NDUFS1 CMKLR2 EEF1B2 LOC105373346
dgv3779n223 Chr.2:197016 - 763147 on Build GRCh38 Duplication TMEM18-DT ACP1 MIR4784 FAR2P1 ANKRD36 ALMS1 SH3YL1 HAT1 ALKAL2 SAG TMEM131 RETSAT SCARNA6 LOC100506076 LOC105373352 IGKV2-26 IGKV3-20 NDUFS1 CMKLR2 TPO IGKV2-29 TRIM43 ALMS1P1 METAP1D ELMOD3 C2orf92 LINC03052 TRIM51JP MZT2B ANKRD36B TCF7L1 LINC01865 IGK DLX1 NAT8B SNORA41 ZAP70 TUBA3E C2orf78 COX5B LOC100996637 ATG16L1 CMKLR2-AS IGKV2-24 NOC2LP1 LOC105373480 SNORD51 APPAT MED15P9 TRIM43B DUSP11 TGOLN2 SMPD4 ZDBF2 TPRKB ACTR1B LOC105373346 GCSHP3 TRIM64FP ANKRD33BP1 NAT8 TMEM18 POTEF SLC25A12 DGKD NDUFA10 SCARNA5 TDRD15 LINC01875 CCDC74B LINC01874 LOC101926959 LOC124905962 EEF1B2

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