CDRT15L2 (CMT1A duplicated region transcript 15 like 2) - Rat Genome Database

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Gene: CDRT15L2 (CMT1A duplicated region transcript 15 like 2) Homo sapiens
Analyze
Symbol: CDRT15L2
Name: CMT1A duplicated region transcript 15 like 2
RGD ID: 2298814
HGNC Page HGNC:34075
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CMT1A duplicated region transcript 15 protein-like protein; CMT1A duplicated region transcript 15-like 2
RGD Orthologs
Rat
Bonobo
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381720,579,724 - 20,580,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1720,579,724 - 20,580,911 (+)EnsemblGRCh38hg38GRCh38
GRCh371720,483,037 - 20,484,224 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361720,422,589 - 20,424,816 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map17p11.2NCBI
HuRef1719,685,439 - 19,686,319 (+)NCBIHuRef
CHM1_11720,491,737 - 20,492,924 (+)NCBICHM1_1
T2T-CHM13v2.01720,528,374 - 20,529,561 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References
Additional References at PubMed
PMID:16625196   PMID:26186194   PMID:28514442   PMID:33961781  


Genomics

Comparative Map Data
CDRT15L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381720,579,724 - 20,580,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1720,579,724 - 20,580,911 (+)EnsemblGRCh38hg38GRCh38
GRCh371720,483,037 - 20,484,224 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361720,422,589 - 20,424,816 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map17p11.2NCBI
HuRef1719,685,439 - 19,686,319 (+)NCBIHuRef
CHM1_11720,491,737 - 20,492,924 (+)NCBICHM1_1
T2T-CHM13v2.01720,528,374 - 20,529,561 (+)NCBIT2T-CHM13v2.0
Cdrt15l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81611,232,244 - 11,238,199 (-)NCBIGRCr8
mRatBN7.21611,226,012 - 11,231,967 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1611,122,718 - 11,158,623 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1611,148,955 - 11,154,902 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01612,293,700 - 12,299,647 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01611,156,894 - 11,276,617 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01612,190,742 - 12,196,263 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1612,191,697 - 12,194,118 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01610,516,168 - 10,518,927 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41611,610,676 - 11,613,098 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1612,007,086 - 12,009,278 (+)NCBICelera
Cytogenetic Map16p14NCBI
LOC100984246
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21956,848,650 - 56,849,902 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11761,851,695 - 61,854,053 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01734,687,352 - 34,689,552 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11742,060,430 - 42,062,503 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1742,060,430 - 42,062,500 (+)Ensemblpanpan1.1panPan2

Variants

.
Variants in CDRT15L2
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3 copy number gain See cases [RCV000054009] Chr17:19070690..21619442 [GRCh38]
Chr17:18974003..21522709 [GRCh37]
Chr17:18914728..21463302 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:19239860-21530183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|See cases [RCV000054010] Chr17:19239860..21530183 [GRCh38]
Chr17:19143173..21433444 [GRCh37]
Chr17:19083766..21374037 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:20268155-20935953)x1 copy number loss See cases [RCV000139080] Chr17:20268155..20935953 [GRCh38]
Chr17:20171468..20839266 [GRCh37]
Chr17:20112060..20779858 [NCBI36]
Chr17:17p11.2		 likely benign
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3 copy number gain See cases [RCV000142733] Chr17:19744033..21598663 [GRCh38]
Chr17:19647346..21501929 [GRCh37]
Chr17:19587938..21442522 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:20051012-20592172) copy number loss Abnormal esophagus morphology [RCV000416864] Chr17:20051012..20592172 [GRCh37]
Chr17:17p11.2		 likely benign
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001190790.2(CDRT15L2):c.787G>A (p.Val263Ile) single nucleotide variant Inborn genetic diseases [RCV003250208] Chr17:20580670 [GRCh38]
Chr17:20483983 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2-11.1(chr17:20465210-22261792)x3 copy number gain not provided [RCV000683910] Chr17:20465210..22261792 [GRCh37]
Chr17:17p11.2-11.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autism [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2		 pathogenic
NM_001190790.2(CDRT15L2):c.11G>A (p.Cys4Tyr) single nucleotide variant Inborn genetic diseases [RCV003276502] Chr17:20579754 [GRCh38]
Chr17:20483067 [GRCh37]
Chr17:17p11.2		 uncertain significance
Single allele complex PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] Chr17:14876984..22124952 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_001190790.2(CDRT15L2):c.358G>A (p.Glu120Lys) single nucleotide variant Inborn genetic diseases [RCV002689458] Chr17:20580241 [GRCh38]
Chr17:20483554 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.559G>A (p.Gly187Arg) single nucleotide variant Inborn genetic diseases [RCV002969126] Chr17:20580442 [GRCh38]
Chr17:20483755 [GRCh37]
Chr17:17p11.2		 likely benign
NM_001190790.2(CDRT15L2):c.592C>T (p.Leu198Phe) single nucleotide variant Inborn genetic diseases [RCV002841624] Chr17:20580475 [GRCh38]
Chr17:20483788 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.211C>T (p.His71Tyr) single nucleotide variant Inborn genetic diseases [RCV002689249] Chr17:20579954 [GRCh38]
Chr17:20483267 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.780G>C (p.Trp260Cys) single nucleotide variant Inborn genetic diseases [RCV002849387] Chr17:20580663 [GRCh38]
Chr17:20483976 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.353C>A (p.Ala118Glu) single nucleotide variant Inborn genetic diseases [RCV002848609] Chr17:20580236 [GRCh38]
Chr17:20483549 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.350G>A (p.Arg117Lys) single nucleotide variant Inborn genetic diseases [RCV002693817] Chr17:20580233 [GRCh38]
Chr17:20483546 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.361G>A (p.Val121Met) single nucleotide variant Inborn genetic diseases [RCV002869201] Chr17:20580244 [GRCh38]
Chr17:20483557 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.125G>C (p.Arg42Thr) single nucleotide variant Inborn genetic diseases [RCV002799677] Chr17:20579868 [GRCh38]
Chr17:20483181 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.107G>T (p.Arg36Leu) single nucleotide variant Inborn genetic diseases [RCV002951563] Chr17:20579850 [GRCh38]
Chr17:20483163 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.4T>C (p.Phe2Leu) single nucleotide variant Inborn genetic diseases [RCV002661250] Chr17:20579747 [GRCh38]
Chr17:20483060 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.310G>A (p.Val104Ile) single nucleotide variant Inborn genetic diseases [RCV002917042] Chr17:20580193 [GRCh38]
Chr17:20483506 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.299C>T (p.Ala100Val) single nucleotide variant Inborn genetic diseases [RCV003004723] Chr17:20580182 [GRCh38]
Chr17:20483495 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.384C>A (p.Asp128Glu) single nucleotide variant Inborn genetic diseases [RCV003256261] Chr17:20580267 [GRCh38]
Chr17:20483580 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.272G>T (p.Gly91Val) single nucleotide variant Inborn genetic diseases [RCV003190986] Chr17:20580155 [GRCh38]
Chr17:20483468 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.815C>T (p.Ala272Val) single nucleotide variant Inborn genetic diseases [RCV003214613] Chr17:20580698 [GRCh38]
Chr17:20484011 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.632C>T (p.Ala211Val) single nucleotide variant Inborn genetic diseases [RCV003371398] Chr17:20580515 [GRCh38]
Chr17:20483828 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_001190790.2(CDRT15L2):c.562G>T (p.Asp188Tyr) single nucleotide variant Inborn genetic diseases [RCV003386763] Chr17:20580445 [GRCh38]
Chr17:20483758 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3 copy number gain not provided [RCV003485147] Chr17:18614422..22227823 [GRCh37]
Chr17:17p11.2-11.1		 uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 copy number loss not provided [RCV003483314] Chr17:15694772..20582794 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_001190790.2(CDRT15L2):c.705C>T (p.Ser235=) single nucleotide variant not provided [RCV003413174] Chr17:20580588 [GRCh38]
Chr17:20483901 [GRCh37]
Chr17:17p11.2		 likely benign
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 copy number loss not specified [RCV003987246] Chr17:15759103..20564268 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:181
Count of miRNA genes:173
Interacting mature miRNAs:177
Transcripts:ENST00000399044
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 310
Low 1 2 10 2 3 108 61 4 1 1
Below cutoff 172 181 123 32 148 22 399 141 509 34 142 146 13 86 222

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000399044   ⟹   ENSP00000382000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1720,579,724 - 20,580,911 (+)Ensembl
RefSeq Acc Id: ENST00000661883   ⟹   ENSP00000499342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1720,579,724 - 20,580,911 (+)Ensembl
RefSeq Acc Id: NM_001190790   ⟹   NP_001177719
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381720,579,724 - 20,580,911 (+)NCBI
GRCh371720,483,037 - 20,484,224 (+)RGD
HuRef1719,685,439 - 19,686,319 (+)NCBI
CHM1_11720,491,737 - 20,492,924 (+)NCBI
T2T-CHM13v2.01720,528,374 - 20,529,561 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001177719 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A8MXV6 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000382000
  ENSP00000382000.1
  ENSP00000499342.1
Reference Protein Sequences
RefSeq Acc Id: NP_001177719   ⟸   NM_001190790
- UniProtKB: A8MXV6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000382000   ⟸   ENST00000399044
RefSeq Acc Id: ENSP00000499342   ⟸   ENST00000661883

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MXV6-F1-model_v2 AlphaFold A8MXV6 1-281 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34075 AgrOrtholog
COSMIC CDRT15L2 COSMIC
Ensembl Genes ENSG00000214819 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399044 ENTREZGENE
  ENST00000399044.1 UniProtKB/Swiss-Prot
  ENST00000661883.1 UniProtKB/TrEMBL
GTEx ENSG00000214819 GTEx
HGNC ID HGNC:34075 ENTREZGENE
Human Proteome Map CDRT15L2 Human Proteome Map
KEGG Report hsa:256223 UniProtKB/Swiss-Prot
NCBI Gene 256223 ENTREZGENE
PANTHER CMT1A DUPLICATED REGION TRANSCRIPT 15 PROTEIN-LIKE PROTEIN UniProtKB/Swiss-Prot
  CMT1A DUPLICATED REGION TRANSCRIPT 15 PROTEIN-LIKE PROTEIN UniProtKB/Swiss-Prot
  CMT1A DUPLICATED REGION TRANSCRIPT 15 PROTEIN-LIKE PROTEIN UniProtKB/TrEMBL
  CMT1A DUPLICATED REGION TRANSCRIPT 15 PROTEIN-LIKE PROTEIN UniProtKB/TrEMBL
PharmGKB PA162382160 PharmGKB
UniProt A0A590UJC2_HUMAN UniProtKB/TrEMBL
  A8MXV6 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-02-28 CDRT15L2  CMT1A duplicated region transcript 15 like 2    CMT1A duplicated region transcript 15-like 2  Symbol and/or name change 5135510 APPROVED