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See other MC1R CNV Assays ›
Gene Symbol
MC1R
Assay Reference Genome
Location

Chr.16:89920109 on build GRCh38
Cytoband
16q24.3
Assay ID Hs01500679_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 4157

Gene Name:

 melanocortin 1 receptor

Gene Aliases:

 CMM5, MSH-R, SHEP2

Location:

 Chr.16:89917879-89920977 on Build GRCh38

Assay Gene Location:

 Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MC1R NM_002386.3 1 2231 NP_002377.4
AK024232.1 1 2232
AK054666.1 2 1202
AK225902.1 1 1248
BC007856.2 1 1230 AAH07856.1
BC080622.1 1 1057 AAH80622.1
X67594.1 1 1019 CAA47865.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2762221 Chr.16:89610380 - 90039318 on Build GRCh38 Gain+Loss CHMP1A LOC107984817 CENPBD1 GAS8 VPS9D1 DEF8 SPATA2L VPS9D1-AS1 FANCA DBNDD1 ZNF276 DPEP1 SPIRE2 CDK10 TUBB3 AFG3L1P SPATA33 LOC105371419 GAS8-AS1 MC1R TCF25
nsv525671 Chr.16:89915950 - 89932386 on Build GRCh38 Loss MC1R TUBB3
nsv573810 Chr.16:89857498 - 90037251 on Build GRCh38 Loss AFG3L1P CENPBD1 GAS8 DEF8 DBNDD1 GAS8-AS1 MC1R SPIRE2 TUBB3 TCF25
nsv1070371 Chr.16:89919991 - 89925792 on Build GRCh38 Deletion MC1R TUBB3
nsv428331 Chr.16:89216635 - 90185980 on Build GRCh38 Gain+Loss CHMP1A GAS8 DEF8 VPS9D1-AS1 URAHP LOC105371414 ZNF276 DPEP1 FAM157C SPIRE2 CDK10 TUBB3 SPG7 ANKRD11 LOC101927817 LOC107984817 PRDM7 CENPBD1 VPS9D1 SPATA2L FANCA SNORD68 DBNDD1 ZNF778 RPL13 AFG3L1P SPATA33 TUBB8P7 LOC105371419 GAS8-AS1 MC1R CPNE7 TCF25 LOC100287036
nsv573799 Chr.16:89852186 - 90022379 on Build GRCh38 Gain AFG3L1P CENPBD1 GAS8 DEF8 DBNDD1 LOC105371419 MC1R SPIRE2 TUBB3 TCF25
nsv509640 Chr.16:89899749 - 89969797 on Build GRCh38 Insertion CENPBD1 DEF8 MC1R TUBB3 TCF25
nsv482951 Chr.16:88633593 - 90228345 on Build GRCh38 Loss GAS8 DEF8 VPS9D1-AS1 LOC107987238 FAM157C SPIRE2 CDK10 TUBB3 SPG7 CDT1 CTU2 IL17C RNF166 SLC22A31 LOC101927817 VPS9D1 FANCA PIEZO1 SNORD68 DBNDD1 ZNF778 LOC101927793 RPL13 AFG3L1P SPATA33 TUBB8P7 GAS8-AS1 MC1R SNAI3-AS1 TCF25 CHMP1A LOC100289580 URAHP LOC105371414 ZNF276 DPEP1 ANKRD11 ACSF3 MVD MIR4722 GALNS PABPN1L LOC105371409 LOC107984817 PRDM7 CENPBD1 SPATA2L CBFA2T3 LOC339059 SNAI3 LOC100129697 CDH15 LOC400558 TRAPPC2L APRT LINC00304 LOC105371419 CPNE7 LOC100287036 CYBA
nsv1066499 Chr.16:89891957 - 90028891 on Build GRCh38 Loss AFG3L1P CENPBD1 GAS8 DEF8 DBNDD1 MC1R TUBB3 TCF25

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