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

Chr.2:273406 on build GRCh38
Cytoband
Assay ID Hs03395816_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 ALMS1 IGKV3-20 SLC25A12 SH3YL1 POTEF LOC100506076 TGOLN2 ELMOD3 IGKV2-24 NDUFS1 EEF1B2 ACP1 SNORD51 IGK LOC105373346 ALKAL2 SNORA41 TRIM51JP SAG RETSAT CMKLR2
esv3589599 Chr.2:251988 - 283726 on Build GRCh38 Gain ALMS1 SLC25A12 SH3YL1 POTEF LOC100506076 TGOLN2 ELMOD3 NDUFS1 EEF1B2 ACP1 SNORD51 IGK ALKAL2 SNORA41 TRIM51JP SAG RETSAT
dgv3698n100 Chr.2:265970 - 313392 on Build GRCh38 Gain ALMS1 SLC25A12 LINC03052 POTEF LOC100506076 ELMOD3 IGKV2-24 NDUFS1 EEF1B2 ACP1 MED15P9 SNORD51 IGK LOC105373346 DGKD ALKAL2 SNORA41 ANKRD33BP1 NAT8 SAG RETSAT CMKLR2-AS CMKLR2 IGKV2-26
nsv833159 Chr.2:158491 - 327294 on Build GRCh38 Loss TCF7L1 ALMS1 INO80D-AS1 SCARNA6 CCDC74B LINC01865 LINC03052 LOC100506076 ELMOD3 IGKV2-24 LOC124905368 MED15P9 LINC01881 DGKD ANKRD33BP1 NDUFA10 GCSHP3 SLC25A12 NDUFS1 ANKRD36 TRIM64FP TRIM51JP NAT8 SAG RETSAT IGKV3-20 TPO TRIM43 SH3YL1 FAHD2A EEF1B2 SNORD51 LOC105373346 ALMS1P1 FAR2P1 CMKLR2-AS SCARNA5 CMKLR2 ATG16L1 POTEF TGOLN2 TDRD15 DYNC1I2 INO80D ACP1 IGK ALKAL2 SNORA41 LALTOP IGKV2-26
nsv4052979 Chr.2:10001 - 590000 on Build GRCh38 Deletion G6PC2 SCARNA6 CCDC74B LINC01822 LINC03052 MIR1245A PLAC9P1 ELMOD3 LOC101926959 LOC124905368 LINC01881 LINC01238 NEU4 NDUFA10 IGKV2-29 INPP5D RAB6C-AS1 ADI1 PDCD1 C2orf92 ANKRD36B NAT8 RETSAT COL3A1 LINC03100 GPAT2 LINC01874 IGKV3-20 TPO MIR3606 HAT1 SMPD4 NAT8B LOC100287387 SNORD51 LOC105373346 ALMS1P1 TRIM43B CMKLR2-AS LINC02572 LINC03124 SCARNA5 TCF7L1-IT1 CMKLR2 LINC01115 MZT2B ATG16L1 TRAPPC12 LINC01237 POTEF FAM240C TGOLN2 TDRD15 ZDBF2 PROM2 ACP1 IGK ALKAL2 SNORA41 LALTOP LINC01880 GPAT2P2 LOC100507443 LOC100996637 CRYGC TCF7L1 ALMS1 INO80D-AS1 LINC01865 APPAT COX5B APOB LOC100506076 IGKV2-24 NOSTRIN MED15P9 KIF5C METAP1D DGKD ACTR1B ANKRD33BP1 GAL3ST2 TWIST2 MIR4784 FAM110C CRYGD GCSHP3 TUBA3E SLC25A12 SNTG2 TRAPPC12-AS1 RAB6C KCNIP3 IGKV1-5 NOC2LP1 NDUFS1 ANKRD36 LINC01856 RTP5 TRIM64FP TRIM51JP SAG LOC124905962 TPRKB LOC285097 LOC105373352 LOC102724579 TRIM43 FAHD2B SH3YL1 DUSP11 FAHD2A MIR1245B EEF1B2 FAR2P1 LOC150935 ABCB11 ALMS1-IT1 DYNC1I2 DLX1 INO80D LINC01875 CDRT15P3 SPC25 C2orf78 IGKV2-26
nsv6316255 Chr.2:27263 - 377948 on Build GRCh38 Duplication G6PC2 SCARNA6 CCDC74B LINC01822 LINC03052 MIR1245A PLAC9P1 ELMOD3 LOC124905368 LINC01881 NEU4 NDUFA10 IGKV2-29 INPP5D RAB6C-AS1 ADI1 PDCD1 NAT8 RETSAT COL3A1 LINC03100 GPAT2 IGKV3-20 TPO MIR3606 HAT1 SMPD4 NAT8B LOC100287387 SNORD51 LOC105373346 ALMS1P1 TRIM43B CMKLR2-AS LINC02572 LINC03124 SCARNA5 TCF7L1-IT1 CMKLR2 LINC01115 MZT2B ATG16L1 TRAPPC12 LINC01237 POTEF FAM240C TGOLN2 TDRD15 PROM2 ACP1 IGK ALKAL2 SNORA41 LALTOP LINC01880 GPAT2P2 LOC100507443 CRYGC TCF7L1 ALMS1 INO80D-AS1 LINC01865 APOB LOC100506076 IGKV2-24 NOSTRIN MED15P9 KIF5C DGKD ANKRD33BP1 TWIST2 MIR4784 FAM110C CRYGD GCSHP3 TUBA3E SLC25A12 SNTG2 TRAPPC12-AS1 RAB6C KCNIP3 IGKV1-5 NDUFS1 ANKRD36 LINC01856 RTP5 TRIM64FP TRIM51JP SAG LOC285097 LOC102724579 TRIM43 FAHD2B SH3YL1 FAHD2A MIR1245B EEF1B2 FAR2P1 LOC150935 ABCB11 ALMS1-IT1 DYNC1I2 INO80D CDRT15P3 SPC25 IGKV2-26
nsv6321644 Chr.2:214401 - 293900 on Build GRCh38 Duplication TCF7L1 ALMS1 SCARNA6 IGKV3-20 TPO TRIM43 SH3YL1 LOC100506076 ELMOD3 IGKV2-24 EEF1B2 SNORD51 LOC105373346 FAR2P1 SCARNA5 CMKLR2 GCSHP3 SLC25A12 ATG16L1 POTEF TGOLN2 NDUFS1 ANKRD36 ACP1 IGK ALKAL2 SNORA41 TRIM51JP SAG RETSAT
nsv6321692 Chr.2:264180 - 313687 on Build GRCh38 Duplication ALMS1 SH3YL1 LINC03052 LOC100506076 ELMOD3 IGKV2-24 EEF1B2 MED15P9 SNORD51 LOC105373346 DGKD ANKRD33BP1 CMKLR2-AS CMKLR2 SLC25A12 POTEF NDUFS1 ACP1 IGK ALKAL2 SNORA41 NAT8 SAG RETSAT IGKV2-26
nsv4059558 Chr.2:56853 - 309597 on Build GRCh38 Duplication TCF7L1 ALMS1 INO80D-AS1 G6PC2 SCARNA6 APOB LOC100506076 MIR1245A PLAC9P1 ELMOD3 IGKV2-24 LOC124905368 MED15P9 KIF5C LINC01881 DGKD TWIST2 NDUFA10 INPP5D CRYGD RAB6C-AS1 GCSHP3 SLC25A12 ADI1 PDCD1 SNTG2 TRAPPC12-AS1 RAB6C KCNIP3 NDUFS1 ANKRD36 LINC01856 RTP5 TRIM51JP SAG RETSAT COL3A1 LINC03100 GPAT2 LOC102724579 IGKV3-20 TPO MIR3606 TRIM43 FAHD2B SH3YL1 FAHD2A MIR1245B EEF1B2 LOC100287387 SNORD51 LOC105373346 FAR2P1 LINC03124 SCARNA5 TCF7L1-IT1 LOC150935 CMKLR2 LINC01115 ABCB11 ALMS1-IT1 ATG16L1 TRAPPC12 LINC01237 POTEF FAM240C TGOLN2 TDRD15 DYNC1I2 INO80D ACP1 IGK ALKAL2 SNORA41 CDRT15P3 SPC25 LALTOP LINC01880 GPAT2P2 LOC100507443 CRYGC IGKV2-26
esv2759016 Chr.2:167949 - 929902 on Build GRCh38 Gain TCF7L1 ALMS1 INO80D-AS1 SCARNA6 CCDC74B LINC01865 APPAT COX5B LINC03052 LOC100506076 ELMOD3 LOC101926959 IGKV2-24 LOC124905368 MED15P9 METAP1D DGKD ACTR1B ANKRD33BP1 MIR4784 TMEM18-DT NDUFA10 IGKV2-29 GCSHP3 TUBA3E SLC25A12 C2orf92 NOC2LP1 NDUFS1 ANKRD36 LOC105373480 TRIM64FP ANKRD36B TRIM51JP NAT8 SAG RETSAT LOC124905962 TPRKB LINC01874 LOC105373352 IGKV3-20 TPO TRIM43 HAT1 SMPD4 SH3YL1 DUSP11 NAT8B FAHD2A TMEM18 EEF1B2 SNORD51 LOC105373346 ALMS1P1 TRIM43B FAR2P1 CMKLR2-AS SCARNA5 CMKLR2 LINC01115 LINC01939 MZT2B ATG16L1 POTEF TMEM131 TGOLN2 TDRD15 ZAP70 DYNC1I2 ZDBF2 DLX1 INO80D ACP1 LINC01875 IGK ALKAL2 SNORA41 LALTOP C2orf78 LOC100996637 IGKV2-26
nsv5442514 Chr.2:252077 - 294598 on Build GRCh38 Duplication ALMS1 SLC25A12 SH3YL1 POTEF LOC100506076 TGOLN2 ELMOD3 IGKV2-24 NDUFS1 EEF1B2 ACP1 SNORD51 IGK LOC105373346 ALKAL2 SNORA41 TRIM51JP SAG RETSAT CMKLR2
dgv3779n223 Chr.2:197016 - 763147 on Build GRCh38 Duplication TCF7L1 ALMS1 SCARNA6 CCDC74B LINC01865 APPAT COX5B LINC03052 LOC100506076 ELMOD3 LOC101926959 IGKV2-24 MED15P9 METAP1D DGKD ACTR1B ANKRD33BP1 MIR4784 TMEM18-DT NDUFA10 IGKV2-29 GCSHP3 TUBA3E SLC25A12 C2orf92 NOC2LP1 NDUFS1 ANKRD36 LOC105373480 TRIM64FP ANKRD36B TRIM51JP NAT8 SAG RETSAT LOC124905962 TPRKB LINC01874 LOC105373352 IGKV3-20 TPO TRIM43 HAT1 SMPD4 SH3YL1 DUSP11 NAT8B TMEM18 EEF1B2 SNORD51 LOC105373346 ALMS1P1 TRIM43B FAR2P1 CMKLR2-AS SCARNA5 CMKLR2 MZT2B ATG16L1 POTEF TMEM131 TGOLN2 TDRD15 ZAP70 ZDBF2 DLX1 ACP1 LINC01875 IGK ALKAL2 SNORA41 C2orf78 LOC100996637 IGKV2-26

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