Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ADGRE5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ADGRE5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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PMID:12814696 | PMID:14681463 | PMID:17145712 | PMID:22301074 | PMID:30032202 |
ADGRE5 (Sus scrofa - pig) |
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ADGRE5 (Homo sapiens - human) |
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Adgre5 (Mus musculus - house mouse) |
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Adgre5 (Rattus norvegicus - Norway rat) |
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Adgre5 (Chinchilla lanigera - long-tailed chinchilla) |
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ADGRE5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ADGRE5 (Canis lupus familiaris - dog) |
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Adgre5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ADGRE5 (Chlorocebus sabaeus - green monkey) |
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Adgre5 (Heterocephalus glaber - naked mole-rat) |
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Variants in ADGRE5
264 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 2 | 4 | 2 | ||||||
Low | 10 | 2 | 3 | 1 | 2 | 22 | 2 | 3 | 1 |
Below cutoff | 1 |
RefSeq Transcripts | NM_213925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021080704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF413207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK348943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK396195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FP103015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01050794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000015050 ⟹ ENSSSCP00000014645 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000034597 ⟹ ENSSSCP00000028809 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000036462 ⟹ ENSSSCP00000029048 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000051285 ⟹ ENSSSCP00000049898 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000070960 ⟹ ENSSSCP00000070371 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000077637 ⟹ ENSSSCP00000066698 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000081600 ⟹ ENSSSCP00000062624 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_213925 ⟹ NP_999090 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080704 ⟹ XP_020936363 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080710 ⟹ XP_020936369 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080714 ⟹ XP_020936373 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080718 ⟹ XP_020936377 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080722 ⟹ XP_020936381 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080732 ⟹ XP_020936391 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080742 ⟹ XP_020936401 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_999090 | (Get FASTA) | NCBI Sequence Viewer |
XP_020936363 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020936369 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020936373 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020936377 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020936381 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020936391 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020936401 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAL05061 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSSSCP00000014645 | ||
ENSSSCP00000014645.2 | |||
ENSSSCP00000029048 | |||
ENSSSCP00000029048.3 | |||
ENSSSCP00000049898 | |||
ENSSSCP00000049898.1 | |||
ENSSSCP00000062624 | |||
ENSSSCP00000062624.1 | |||
ENSSSCP00000066698.1 | |||
ENSSSCP00000070371.1 | |||
ENSSSCP00005044623.1 | |||
ENSSSCP00005044647.1 | |||
ENSSSCP00005044674.1 | |||
ENSSSCP00005044688.1 | |||
ENSSSCP00005044693.1 | |||
ENSSSCP00005044697.1 | |||
ENSSSCP00005044702.1 | |||
ENSSSCP00015031097.1 | |||
ENSSSCP00015031123.1 | |||
ENSSSCP00015031212.1 | |||
ENSSSCP00015031254.1 | |||
ENSSSCP00015031423.1 | |||
ENSSSCP00015031604.1 | |||
ENSSSCP00015031696.1 | |||
ENSSSCP00015031808.1 | |||
ENSSSCP00025026447.1 | |||
ENSSSCP00025027339.1 | |||
ENSSSCP00025027475.1 | |||
ENSSSCP00030013270.1 | |||
ENSSSCP00030013289.1 | |||
ENSSSCP00030013295.1 | |||
ENSSSCP00030013305.1 | |||
ENSSSCP00030013307.1 | |||
ENSSSCP00030013326.1 | |||
ENSSSCP00030013331.1 | |||
ENSSSCP00035030494.1 | |||
ENSSSCP00035030510.1 | |||
ENSSSCP00035030527.1 | |||
ENSSSCP00035030545.1 | |||
ENSSSCP00035030558.1 | |||
ENSSSCP00035030561.1 | |||
ENSSSCP00040048579.1 | |||
ENSSSCP00040048586.1 | |||
ENSSSCP00040048588.1 | |||
ENSSSCP00040048593.1 | |||
ENSSSCP00040048604.1 | |||
ENSSSCP00040048607.1 | |||
ENSSSCP00045012656.1 | |||
ENSSSCP00045012711.1 | |||
ENSSSCP00045012761.1 | |||
ENSSSCP00045012841.1 | |||
ENSSSCP00045012904.1 | |||
ENSSSCP00045012967.1 | |||
ENSSSCP00055003426.1 | |||
ENSSSCP00055003471.1 | |||
ENSSSCP00055003494.1 | |||
ENSSSCP00055003525.1 | |||
ENSSSCP00055003575.1 | |||
ENSSSCP00055003591.1 | |||
ENSSSCP00060048710.1 | |||
ENSSSCP00060048712.1 | |||
ENSSSCP00065012758.1 | |||
ENSSSCP00070036721.1 | |||
ENSSSCP00070036726.1 | |||
ENSSSCP00070036738.1 | |||
ENSSSCP00070036746.1 | |||
ENSSSCP00070036759.1 | |||
ENSSSCP00070036763.1 |
RefSeq Acc Id: | NP_999090 ⟸ NM_213925 |
- Peptide Label: | precursor |
- UniProtKB: | F1SD42 (UniProtKB/TrEMBL), A0A4X1V7F9 (UniProtKB/TrEMBL), A0A8D0VZV3 (UniProtKB/TrEMBL), A0A8D0M4T8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020936401 ⟸ XM_021080742 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A287B0F5 (UniProtKB/TrEMBL), A0A4X1V5U1 (UniProtKB/TrEMBL), A0A8D1C2Q5 (UniProtKB/TrEMBL), A0A8D0M4M2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020936381 ⟸ XM_021080722 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A5G2QWR4 (UniProtKB/TrEMBL), A0A4X1V7G4 (UniProtKB/TrEMBL), A0A8D0TR18 (UniProtKB/TrEMBL), A0A8D1G5V6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020936373 ⟸ XM_021080714 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8D0U843 (UniProtKB/TrEMBL), A0A8D0TR10 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020936391 ⟸ XM_021080732 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8D0VZV3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020936369 ⟸ XM_021080710 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8D0TR18 (UniProtKB/TrEMBL), A0A8D1G5V6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020936377 ⟸ XM_021080718 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8D1C2Q5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020936363 ⟸ XM_021080704 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8D0TR10 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000014645 ⟸ ENSSSCT00000015050 |
RefSeq Acc Id: | ENSSSCP00000028809 ⟸ ENSSSCT00000034597 |
RefSeq Acc Id: | ENSSSCP00000049898 ⟸ ENSSSCT00000051285 |
RefSeq Acc Id: | ENSSSCP00000070371 ⟸ ENSSSCT00000070960 |
RefSeq Acc Id: | ENSSSCP00000029048 ⟸ ENSSSCT00000036462 |
RefSeq Acc Id: | ENSSSCP00000062624 ⟸ ENSSSCT00000081600 |
RefSeq Acc Id: | ENSSSCP00000066698 ⟸ ENSSSCT00000077637 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000013775 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005044404 | UniProtKB/TrEMBL | |
ENSSSCG00015057905 | UniProtKB/TrEMBL | |
ENSSSCG00025045861 | UniProtKB/TrEMBL | |
ENSSSCG00030021305 | UniProtKB/TrEMBL | |
ENSSSCG00035056208 | UniProtKB/TrEMBL | |
ENSSSCG00040076097 | UniProtKB/TrEMBL | |
ENSSSCG00045010780 | UniProtKB/TrEMBL | |
ENSSSCG00055002338 | UniProtKB/TrEMBL | |
ENSSSCG00060078808 | UniProtKB/TrEMBL | |
ENSSSCG00065023446 | UniProtKB/TrEMBL | |
ENSSSCG00070021902 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000015050 | ENTREZGENE |
ENSSSCT00000015050.6 | UniProtKB/TrEMBL | |
ENSSSCT00000036462 | ENTREZGENE | |
ENSSSCT00000036462.4 | UniProtKB/TrEMBL | |
ENSSSCT00000051285 | ENTREZGENE | |
ENSSSCT00000051285.3 | UniProtKB/TrEMBL | |
ENSSSCT00000070960.1 | UniProtKB/TrEMBL | |
ENSSSCT00000077637.1 | UniProtKB/TrEMBL | |
ENSSSCT00000081600 | ENTREZGENE | |
ENSSSCT00000081600.2 | UniProtKB/TrEMBL | |
ENSSSCT00005071545.1 | UniProtKB/TrEMBL | |
ENSSSCT00005071583.1 | UniProtKB/TrEMBL | |
ENSSSCT00005071619.1 | UniProtKB/TrEMBL | |
ENSSSCT00005071635.1 | UniProtKB/TrEMBL | |
ENSSSCT00005071644.1 | UniProtKB/TrEMBL | |
ENSSSCT00005071652.1 | UniProtKB/TrEMBL | |
ENSSSCT00005071662.1 | UniProtKB/TrEMBL | |
ENSSSCT00015077273.1 | UniProtKB/TrEMBL | |
ENSSSCT00015077332.1 | UniProtKB/TrEMBL | |
ENSSSCT00015077555.1 | UniProtKB/TrEMBL | |
ENSSSCT00015077634.1 | UniProtKB/TrEMBL | |
ENSSSCT00015077953.1 | UniProtKB/TrEMBL | |
ENSSSCT00015078369.1 | UniProtKB/TrEMBL | |
ENSSSCT00015078545.1 | UniProtKB/TrEMBL | |
ENSSSCT00015078817.1 | UniProtKB/TrEMBL | |
ENSSSCT00025062262.1 | UniProtKB/TrEMBL | |
ENSSSCT00025064185.1 | UniProtKB/TrEMBL | |
ENSSSCT00025064510.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029552.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029583.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029595.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029613.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029621.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029672.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029679.1 | UniProtKB/TrEMBL | |
ENSSSCT00035075031.1 | UniProtKB/TrEMBL | |
ENSSSCT00035075062.1 | UniProtKB/TrEMBL | |
ENSSSCT00035075093.1 | UniProtKB/TrEMBL | |
ENSSSCT00035075129.1 | UniProtKB/TrEMBL | |
ENSSSCT00035075152.1 | UniProtKB/TrEMBL | |
ENSSSCT00035075156.1 | UniProtKB/TrEMBL | |
ENSSSCT00040105874.1 | UniProtKB/TrEMBL | |
ENSSSCT00040105887.1 | UniProtKB/TrEMBL | |
ENSSSCT00040105892.1 | UniProtKB/TrEMBL | |
ENSSSCT00040105901.1 | UniProtKB/TrEMBL | |
ENSSSCT00040105913.1 | UniProtKB/TrEMBL | |
ENSSSCT00040105917.1 | UniProtKB/TrEMBL | |
ENSSSCT00045018348.1 | UniProtKB/TrEMBL | |
ENSSSCT00045018429.1 | UniProtKB/TrEMBL | |
ENSSSCT00045018507.1 | UniProtKB/TrEMBL | |
ENSSSCT00045018653.1 | UniProtKB/TrEMBL | |
ENSSSCT00045018755.1 | UniProtKB/TrEMBL | |
ENSSSCT00045018848.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004447.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004502.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004533.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004570.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004635.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004653.1 | UniProtKB/TrEMBL | |
ENSSSCT00060109014.1 | UniProtKB/TrEMBL | |
ENSSSCT00060109022.1 | UniProtKB/TrEMBL | |
ENSSSCT00065031195.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043622.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043627.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043639.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043649.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043663.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043673.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.220.50 | UniProtKB/TrEMBL |
Laminin | UniProtKB/TrEMBL | |
Rhodopsin 7-helix transmembrane proteins | UniProtKB/TrEMBL | |
InterPro | EGF-like_Ca-bd_dom | UniProtKB/TrEMBL |
EGF-like_dom | UniProtKB/TrEMBL | |
EGF-type_Asp/Asn_hydroxyl_site | UniProtKB/TrEMBL | |
EGF_Ca-bd_CS | UniProtKB/TrEMBL | |
GAIN_dom_sf | UniProtKB/TrEMBL | |
GPCR_2-like | UniProtKB/TrEMBL | |
GPCR_2_CD97 | UniProtKB/TrEMBL | |
GPCR_2_secretin-like | UniProtKB/TrEMBL | |
GPCR_2_secretin-like_CS | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
Growth_fac_rcpt_cys_sf | UniProtKB/TrEMBL | |
KEGG Report | ssc:396964 | UniProtKB/TrEMBL |
NCBI Gene | ADGRE5 | ENTREZGENE |
PANTHER | ADHESION G PROTEIN-COUPLED RECEPTOR E5 | UniProtKB/TrEMBL |
ADHESION G-PROTEIN COUPLED RECEPTOR | UniProtKB/TrEMBL | |
Pfam | 7tm_2 | UniProtKB/TrEMBL |
EGF_CA | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
PRINTS | CD97PROTEIN | UniProtKB/TrEMBL |
GPCRSECRETIN | UniProtKB/TrEMBL | |
PROSITE | ASX_HYDROXYL | UniProtKB/TrEMBL |
EGF_3 | UniProtKB/TrEMBL | |
EGF_CA | UniProtKB/TrEMBL | |
G_PROTEIN_RECEP_F2_2 | UniProtKB/TrEMBL | |
G_PROTEIN_RECEP_F2_4 | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
SMART | EGF | UniProtKB/TrEMBL |
EGF_CA | UniProtKB/TrEMBL | |
GPS | UniProtKB/TrEMBL | |
Superfamily-SCOP | EGF/Laminin | UniProtKB/TrEMBL |
Family A G protein-coupled receptor-like | UniProtKB/TrEMBL | |
SSF57184 | UniProtKB/TrEMBL | |
UniProt | A0A287B0F5 | ENTREZGENE, UniProtKB/TrEMBL |
A0A4X1V251_PIG | UniProtKB/TrEMBL | |
A0A4X1V597_PIG | UniProtKB/TrEMBL | |
A0A4X1V5U1 | ENTREZGENE | |
A0A4X1V7F9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1V7G4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1V7I4_PIG | UniProtKB/TrEMBL | |
A0A5G2QP76_PIG | UniProtKB/TrEMBL | |
A0A5G2QWR4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A5G2QZR4_PIG | UniProtKB/TrEMBL | |
A0A8D0M3U4_PIG | UniProtKB/TrEMBL | |
A0A8D0M4M2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0M4T8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0PB62_PIG | UniProtKB/TrEMBL | |
A0A8D0TR10 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0TR18 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0U843 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0VYA4_PIG | UniProtKB/TrEMBL | |
A0A8D0VZV3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0VZZ5_PIG | UniProtKB/TrEMBL | |
A0A8D0W098_PIG | UniProtKB/TrEMBL | |
A0A8D1A8V8_PIG | UniProtKB/TrEMBL | |
A0A8D1A9B5_PIG | UniProtKB/TrEMBL | |
A0A8D1AG34_PIG | UniProtKB/TrEMBL | |
A0A8D1C2H0_PIG | UniProtKB/TrEMBL | |
A0A8D1C2Q5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1G5V6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1G7L9_PIG | UniProtKB/TrEMBL | |
A0A8D1G9I7_PIG | UniProtKB/TrEMBL | |
A0A8D1GC80_PIG | UniProtKB/TrEMBL | |
A0A8D1H2W4_PIG | UniProtKB/TrEMBL | |
A0A8D1KUJ3_PIG | UniProtKB/TrEMBL | |
A0A8D1PB16_PIG | UniProtKB/TrEMBL | |
A0A8D1PEM3_PIG | UniProtKB/TrEMBL | |
F1SD42 | ENTREZGENE | |
K7GMF6_PIG | UniProtKB/TrEMBL | |
Q95L62_PIG | UniProtKB/TrEMBL | |
UniProt Secondary | A0A4X1V5U1 | UniProtKB/TrEMBL |
F1SD42 | UniProtKB/TrEMBL | |
VGNC ID | VGNC:85125 | ENTREZGENE |