Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | mosaic variegated aneuploidy syndrome 2 | | ISO | CEP57 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | mosaic variegated aneuploidy syndrome 2 | | ISO | CEP57 (Homo sapiens) | 7240710 | | OMIM | | |
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CEP57 (Canis lupus familiaris - dog) |
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CEP57 (Homo sapiens - human) |
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Cep57 (Mus musculus - house mouse) |
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Cep57 (Rattus norvegicus - Norway rat) |
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Cep57 (Chinchilla lanigera - long-tailed chinchilla) |
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CEP57 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Cep57 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CEP57 (Sus scrofa - pig) |
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CEP57 (Chlorocebus sabaeus - green monkey) |
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Cep57 (Heterocephalus glaber - naked mole-rat) |
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Variants in CEP57
262 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 | 4 | 16 | 5 | 4 | 12 | 8 | 10 | 4 | ||||
Low | 1 | 5 | 6 | 6 | 1 | 6 | 2 | 6 | 2 | |||
Below cutoff |
RefSeq Transcripts | XM_005633326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_014122458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_014122459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038429698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038429699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038429700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038429701 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038505116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038505117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038505118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038505119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038568237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038568238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038568239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038568240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038632378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038632379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038632380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038632381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_533972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005298441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005312955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005341633 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005375411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005409397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000006575 ⟹ ENSCAFP00000006086 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000060054 ⟹ ENSCAFP00000064129 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000077711 ⟹ ENSCAFP00000055012 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000091335 ⟹ ENSCAFP00000058716 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845031589 ⟹ ENSCAFP00845024728 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845031722 ⟹ ENSCAFP00845024827 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845031865 ⟹ ENSCAFP00845024928 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845031937 ⟹ ENSCAFP00845024975 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005633326 ⟹ XP_005633383 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_014122458 ⟹ XP_013977933 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_014122459 ⟹ XP_013977934 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038429698 ⟹ XP_038285626 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038429699 ⟹ XP_038285627 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038429700 ⟹ XP_038285628 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038429701 ⟹ XP_038285629 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038505116 ⟹ XP_038361044 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038505117 ⟹ XP_038361045 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038505118 ⟹ XP_038361046 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038505119 ⟹ XP_038361047 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038568237 ⟹ XP_038424165 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038568238 ⟹ XP_038424166 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038568239 ⟹ XP_038424167 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038568240 ⟹ XP_038424168 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038632378 ⟹ XP_038488306 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038632379 ⟹ XP_038488307 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038632380 ⟹ XP_038488308 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038632381 ⟹ XP_038488309 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_533972 ⟹ XP_533972 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_005298441 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005312955 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005341633 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005375411 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005409397 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | XP_005633383 | (Get FASTA) | NCBI Sequence Viewer |
XP_013977933 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013977934 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038285626 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038285627 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038285628 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038285629 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038361044 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038361045 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038361046 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038361047 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038424165 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038424166 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038424167 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038424168 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038488306 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038488307 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038488308 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038488309 | (Get FASTA) | NCBI Sequence Viewer | |
XP_533972 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000006086.5 | ||
ENSCAFP00000055012.2 | |||
ENSCAFP00000058716.2 | |||
ENSCAFP00000064129.1 | |||
ENSCAFP00030031031.1 | |||
ENSCAFP00030031122.1 | |||
ENSCAFP00040025105.1 | |||
ENSCAFP00040025131.1 | |||
ENSCAFP00845024728 | |||
ENSCAFP00845024728.1 | |||
ENSCAFP00845024827 | |||
ENSCAFP00845024827.1 | |||
ENSCAFP00845024928 | |||
ENSCAFP00845024928.1 | |||
ENSCAFP00845024975.1 |
RefSeq Acc Id: | XP_013977933 ⟸ XM_014122458 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3PBW8 (UniProtKB/TrEMBL), A0A8P0P4E6 (UniProtKB/TrEMBL), A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013977934 ⟸ XM_014122459 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3S2Y0 (UniProtKB/TrEMBL), A0A8P0N6W6 (UniProtKB/TrEMBL), A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_533972 ⟸ XM_533972 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0KRC9 (UniProtKB/TrEMBL), A0A8C0YZA9 (UniProtKB/TrEMBL), A0A8I3P1V5 (UniProtKB/TrEMBL), A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005633383 ⟸ XM_005633326 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000064129 ⟸ ENSCAFT00000060054 |
RefSeq Acc Id: | ENSCAFP00000055012 ⟸ ENSCAFT00000077711 |
RefSeq Acc Id: | ENSCAFP00000058716 ⟸ ENSCAFT00000091335 |
RefSeq Acc Id: | ENSCAFP00000006086 ⟸ ENSCAFT00000006575 |
RefSeq Acc Id: | XP_038361045 ⟸ XM_038505117 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038361046 ⟸ XM_038505118 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038361047 ⟸ XM_038505119 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038361044 ⟸ XM_038505116 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038488307 ⟸ XM_038632379 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038488308 ⟸ XM_038632380 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038488309 ⟸ XM_038632381 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038488306 ⟸ XM_038632378 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038285627 ⟸ XM_038429699 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3PBW8 (UniProtKB/TrEMBL), A0A8P0P4E6 (UniProtKB/TrEMBL), A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038285628 ⟸ XM_038429700 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3S2Y0 (UniProtKB/TrEMBL), A0A8P0N6W6 (UniProtKB/TrEMBL), A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038285629 ⟸ XM_038429701 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0KRC9 (UniProtKB/TrEMBL), A0A8C0YZA9 (UniProtKB/TrEMBL), A0A8I3P1V5 (UniProtKB/TrEMBL), A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038285626 ⟸ XM_038429698 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038424166 ⟸ XM_038568238 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038424167 ⟸ XM_038568239 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038424168 ⟸ XM_038568240 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038424165 ⟸ XM_038568237 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0SR60 (UniProtKB/TrEMBL), A0A8I3P630 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845024928 ⟸ ENSCAFT00845031865 |
RefSeq Acc Id: | ENSCAFP00845024728 ⟸ ENSCAFT00845031589 |
RefSeq Acc Id: | ENSCAFP00845024975 ⟸ ENSCAFT00845031937 |
RefSeq Acc Id: | ENSCAFP00845024827 ⟸ ENSCAFT00845031722 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000004104 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030019273 | UniProtKB/TrEMBL | |
ENSCAFG00040015610 | UniProtKB/TrEMBL | |
ENSCAFG00845017787 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000006575.5 | UniProtKB/TrEMBL |
ENSCAFT00000060054.2 | UniProtKB/TrEMBL | |
ENSCAFT00000077711.2 | UniProtKB/TrEMBL | |
ENSCAFT00000091335.2 | UniProtKB/TrEMBL | |
ENSCAFT00030035582.1 | UniProtKB/TrEMBL | |
ENSCAFT00030035685.1 | UniProtKB/TrEMBL | |
ENSCAFT00040028905.1 | UniProtKB/TrEMBL | |
ENSCAFT00040028931.1 | UniProtKB/TrEMBL | |
ENSCAFT00845031589 | ENTREZGENE | |
ENSCAFT00845031589.1 | UniProtKB/TrEMBL | |
ENSCAFT00845031722 | ENTREZGENE | |
ENSCAFT00845031722.1 | UniProtKB/TrEMBL | |
ENSCAFT00845031865 | ENTREZGENE | |
ENSCAFT00845031865.1 | UniProtKB/TrEMBL | |
ENSCAFT00845031937.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.58.90 | UniProtKB/TrEMBL |
InterPro | Cep57_CLD | UniProtKB/TrEMBL |
Cep57_MT-bd_dom | UniProtKB/TrEMBL | |
NCBI Gene | CEP57 | ENTREZGENE |
PANTHER | PTHR19336:SF11 | UniProtKB/TrEMBL |
UNCHARACTERIZED DUF1167 | UniProtKB/TrEMBL | |
Pfam | Cep57_CLD | UniProtKB/TrEMBL |
Cep57_MT_bd | UniProtKB/TrEMBL | |
UniProt | A0A8C0KRC9 | ENTREZGENE |
A0A8C0SR60 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0YZA9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3P1V5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3P630 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PBW8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3S2Y0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0N6W6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0P4E6 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:39131 | ENTREZGENE |