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Entrez Gene ID: | 386593 |
Gene Name: | CHKB-CPT1B readthrough (NMD candidate) |
Gene Aliases: |
CHKL-CPT1B |
Location: |
Chr.22:50568861-50582999 on Build GRCh38 |
Assay Gene Location: | Within Intron 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHKB-CPT1B | NR_027928.2 | |||
AB051457.1 | BAB33340.1 | |||
AK301477.1 | ||||
BC131570.1 |
Entrez Gene ID: | 1375 |
Gene Name: | carnitine palmitoyltransferase 1B |
Gene Aliases: |
CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1 |
Location: |
Chr.22:50568861-50578667 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CPT1B | NM_001145134.1 | NP_001138606.1 | ||
NM_001145135.1 | NP_001138607.1 | |||
NM_152245.2 | NP_689451.1 | |||
AK223174.1 | BAD96894.1 | |||
AK297866.1 | ||||
AK299395.1 | ||||
DC373481.1 | ||||
U66828.1 | AAB40651.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2758852 | Chr.22:50491090 - 50578979 on Build GRCh38 | Loss | ODF3B KLHDC7B NCAPH2 CHKB-CPT1B SCO2 TYMP CPT1B CHKB SYCE3 LMF2 |
nsv1059234 | Chr.22:50560544 - 50617472 on Build GRCh38 | Gain | CHKB-AS1 CHKB-CPT1B MAPK8IP2 CPT1B CHKB SYCE3 |
nsv1057656 | Chr.22:50478783 - 50595520 on Build GRCh38 | Gain | TYMP CPT1B SYCE3 LMF2 ODF3B KLHDC7B MIOX CHKB-AS1 NCAPH2 CHKB-CPT1B SCO2 CHKB ADM2 |
nsv471224 | Chr.22:50435189 - 50580482 on Build GRCh38 | Loss | PPP6R2 TYMP CPT1B SBF1 SYCE3 LMF2 ODF3B KLHDC7B MIOX NCAPH2 CHKB-CPT1B SCO2 CHKB ADM2 |
nsv829340 | Chr.22:50505720 - 50603696 on Build GRCh38 | Gain | ODF3B KLHDC7B CHKB-AS1 NCAPH2 CHKB-CPT1B MAPK8IP2 SCO2 TYMP CPT1B CHKB SYCE3 LMF2 |
nsv834239 | Chr.22:50485317 - 50630215 on Build GRCh38 | Loss | ARSA TYMP CPT1B SYCE3 LMF2 ODF3B KLHDC7B MIOX CHKB-AS1 NCAPH2 CHKB-CPT1B MAPK8IP2 SCO2 CHKB ADM2 |
nsv955202 | Chr.22:50544472 - 50582171 on Build GRCh38 | Deletion | KLHDC7B CHKB-CPT1B CPT1B CHKB SYCE3 |
nsv589223 | Chr.22:50539595 - 50619495 on Build GRCh38 | Loss | KLHDC7B CHKB-AS1 CHKB-CPT1B MAPK8IP2 CPT1B CHKB SYCE3 |
nsv589222 | Chr.22:50491152 - 50589773 on Build GRCh38 | Gain | ODF3B KLHDC7B CHKB-AS1 NCAPH2 CHKB-CPT1B SCO2 TYMP CPT1B CHKB SYCE3 LMF2 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |