Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | bipolar disorder | | ISO | SCN2A (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31043756 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | bipolar disorder | | ISO | SCN2A (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31043756 | |
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SCN2A (Canis lupus familiaris - dog) |
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SCN2A (Homo sapiens - human) |
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Scn2a (Mus musculus - house mouse) |
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Scn2a (Rattus norvegicus - Norway rat) |
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Scn2a (Chinchilla lanigera - long-tailed chinchilla) |
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SCN2A (Pan paniscus - bonobo/pygmy chimpanzee) |
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Scn2a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SCN2A (Sus scrofa - pig) |
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SCN2A (Chlorocebus sabaeus - green monkey) |
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Variants in SCN2A
1195 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 1 | 7 | ||||||||||
Low | 6 | 5 | 8 | 1 | ||||||||
Below cutoff | 5 | 5 | 14 | 5 | 6 | 5 | 6 | 4 | 9 | 6 |
RefSeq Transcripts | XM_014110824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_014110825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022414740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022414741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_022414742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038446929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038446930 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038446931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038446932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038463415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038521005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038521006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038521007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038521008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038584698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038584699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038584700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038584701 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038649116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038649117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038649118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038649119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_535939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000017733 ⟹ ENSCAFP00000016416 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000068235 ⟹ ENSCAFP00000048736 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000068896 ⟹ ENSCAFP00000057716 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000073386 ⟹ ENSCAFP00000064030 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845029009 ⟹ ENSCAFP00845022818 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845029123 ⟹ ENSCAFP00845022905 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845029212 ⟹ ENSCAFP00845022975 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845029357 ⟹ ENSCAFP00845023077 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_014110824 ⟹ XP_013966299 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022414742 ⟹ XP_022270450 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038446929 ⟹ XP_038302857 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038446930 ⟹ XP_038302858 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038446931 ⟹ XP_038302859 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038446932 ⟹ XP_038302860 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038463415 ⟹ XP_038319343 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038521005 ⟹ XP_038376933 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038521006 ⟹ XP_038376934 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038521007 ⟹ XP_038376935 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038521008 ⟹ XP_038376936 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038584698 ⟹ XP_038440626 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038584699 ⟹ XP_038440627 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038584700 ⟹ XP_038440628 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038584701 ⟹ XP_038440629 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038649116 ⟹ XP_038505044 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038649117 ⟹ XP_038505045 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038649118 ⟹ XP_038505046 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038649119 ⟹ XP_038505047 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_535939 ⟹ XP_535939 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_013966299 | (Get FASTA) | NCBI Sequence Viewer |
XP_022270450 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038302857 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038302858 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038302859 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038302860 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038319343 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038376933 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038376934 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038376935 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038376936 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038440626 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038440627 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038440628 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038440629 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038505044 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038505045 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038505046 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038505047 | (Get FASTA) | NCBI Sequence Viewer | |
XP_535939 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000016416.4 | ||
ENSCAFP00000057716.1 | |||
ENSCAFP00000064030.1 | |||
ENSCAFP00000071967.1 | |||
ENSCAFP00030031168.1 | |||
ENSCAFP00030031312.1 | |||
ENSCAFP00030031346.1 | |||
ENSCAFP00040039572.1 | |||
ENSCAFP00040039625.1 | |||
ENSCAFP00040039642.1 | |||
ENSCAFP00845022818 | |||
ENSCAFP00845022818.1 | |||
ENSCAFP00845022905.1 | |||
ENSCAFP00845022975.1 | |||
ENSCAFP00845023077.1 |
RefSeq Acc Id: | XP_013966299 ⟸ XM_014110824 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0TTQ7 (UniProtKB/TrEMBL), A0A8I3NWP9 (UniProtKB/TrEMBL), A0A8I3NV34 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_535939 ⟸ XM_535939 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0TTQ7 (UniProtKB/TrEMBL), A0A8I3NWP9 (UniProtKB/TrEMBL), A0A8I3NV34 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022270450 ⟸ XM_022414742 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000057716 ⟸ ENSCAFT00000068896 |
RefSeq Acc Id: | ENSCAFP00000064030 ⟸ ENSCAFT00000073386 |
RefSeq Acc Id: | ENSCAFP00000048736 ⟸ ENSCAFT00000068235 |
RefSeq Acc Id: | ENSCAFP00000016416 ⟸ ENSCAFT00000017733 |
RefSeq Acc Id: | XP_038376933 ⟸ XM_038521005 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038376934 ⟸ XM_038521006 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038376935 ⟸ XM_038521007 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038376936 ⟸ XM_038521008 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038505044 ⟸ XM_038649116 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038505045 ⟸ XM_038649117 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038505046 ⟸ XM_038649118 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038505047 ⟸ XM_038649119 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038302857 ⟸ XM_038446929 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0TTQ7 (UniProtKB/TrEMBL), A0A8I3NWP9 (UniProtKB/TrEMBL), A0A8I3NV34 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038302858 ⟸ XM_038446930 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0TTQ7 (UniProtKB/TrEMBL), A0A8I3NWP9 (UniProtKB/TrEMBL), A0A8I3NV34 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038302859 ⟸ XM_038446931 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3NV34 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038302860 ⟸ XM_038446932 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038319343 ⟸ XM_038463415 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3NV34 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038440626 ⟸ XM_038584698 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0TTQ7 (UniProtKB/TrEMBL), A0A8I3NV34 (UniProtKB/TrEMBL), A0A8I3NWP9 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038440627 ⟸ XM_038584699 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0TTQ7 (UniProtKB/TrEMBL), A0A8I3NV34 (UniProtKB/TrEMBL), A0A8I3NWP9 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038440628 ⟸ XM_038584700 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3NV34 (UniProtKB/TrEMBL), A0A8P0TFJ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038440629 ⟸ XM_038584701 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | ENSCAFP00845022818 ⟸ ENSCAFT00845029009 |
RefSeq Acc Id: | ENSCAFP00845023077 ⟸ ENSCAFT00845029357 |
RefSeq Acc Id: | ENSCAFP00845022975 ⟸ ENSCAFT00845029212 |
RefSeq Acc Id: | ENSCAFP00845022905 ⟸ ENSCAFT00845029123 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000011130 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030019437 | UniProtKB/TrEMBL | |
ENSCAFG00040024312 | UniProtKB/TrEMBL | |
ENSCAFG00845016291 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000017733.6 | UniProtKB/TrEMBL |
ENSCAFT00000068896.2 | UniProtKB/TrEMBL | |
ENSCAFT00000073386.2 | UniProtKB/TrEMBL | |
ENSCAFT00000109002.1 | UniProtKB/TrEMBL | |
ENSCAFT00030035737.1 | UniProtKB/TrEMBL | |
ENSCAFT00030035904.1 | UniProtKB/TrEMBL | |
ENSCAFT00030035940.1 | UniProtKB/TrEMBL | |
ENSCAFT00040045316.1 | UniProtKB/TrEMBL | |
ENSCAFT00040045375.1 | UniProtKB/TrEMBL | |
ENSCAFT00040045394.1 | UniProtKB/TrEMBL | |
ENSCAFT00845029009 | ENTREZGENE | |
ENSCAFT00845029009.1 | UniProtKB/TrEMBL | |
ENSCAFT00845029123.1 | UniProtKB/TrEMBL | |
ENSCAFT00845029212.1 | UniProtKB/TrEMBL | |
ENSCAFT00845029357.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.70 | UniProtKB/TrEMBL |
1.20.120.350 | UniProtKB/TrEMBL | |
EF-hand | UniProtKB/TrEMBL | |
iswi atpase | UniProtKB/TrEMBL | |
InterPro | Ion_trans_dom | UniProtKB/TrEMBL |
IQ_motif_EF-hand-BS | UniProtKB/TrEMBL | |
Na_channel_asu | UniProtKB/TrEMBL | |
Na_chnl_inactivation_gate | UniProtKB/TrEMBL | |
Na_trans_assoc | UniProtKB/TrEMBL | |
Na_trans_cytopl | UniProtKB/TrEMBL | |
VGCC_Ca_Na | UniProtKB/TrEMBL | |
Volt_channel_dom_sf | UniProtKB/TrEMBL | |
KEGG Report | cfa:478773 | UniProtKB/TrEMBL |
NCBI Gene | LOC478773 | ENTREZGENE |
PANTHER | PTHR10037 | UniProtKB/TrEMBL |
SODIUM CHANNEL PROTEIN TYPE 2 SUBUNIT ALPHA | UniProtKB/TrEMBL | |
Pfam | Ion_trans | UniProtKB/TrEMBL |
Na_trans_assoc | UniProtKB/TrEMBL | |
Na_trans_cytopl | UniProtKB/TrEMBL | |
PRINTS | NACHANNEL | UniProtKB/TrEMBL |
PROSITE | PS50096 | UniProtKB/TrEMBL |
SMART | SM00015 | UniProtKB/TrEMBL |
Superfamily-SCOP | Voltage-gated potassium channels | UniProtKB/TrEMBL |
UniProt | A0A8C0TQ61_CANLF | UniProtKB/TrEMBL |
A0A8C0TTQ7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0Z634_CANLF | UniProtKB/TrEMBL | |
A0A8I3NQG4_CANLF | UniProtKB/TrEMBL | |
A0A8I3NV34 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3NWP9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3S265_CANLF | UniProtKB/TrEMBL | |
A0A8P0PMS0_CANLF | UniProtKB/TrEMBL | |
A0A8P0TFJ4 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:53105 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2018-02-27 | SCN2A | sodium voltage-gated channel alpha subunit 2 | LOC478773 | sodium channel protein type 2 subunit alpha | Symbol and/or name change | 5135510 | APPROVED |