 |
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| cerebellar ataxia | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25848753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| intellectual disability | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25848753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spinocerebellar Ataxias | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
|
|
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology Annotations
|
|
|
|
|
Phenotype Annotations
|
|
|
References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
| 4. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 11485546 11500980 11736640 12461558 12477932 14702039 15489334 16344560 18160415 20301317 22658674 25148684 25439728 25848753 26186194 26496610 27913285 28514442 28986522 29635513 29872149 30655611 30765438 |
Comparative Map Data| SNX14 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Snx14 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Snx14 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Snx14 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SNX14 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SNX14 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Snx14 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SNX14 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SNX14 (Chlorocebus sabaeus - African green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Snx14 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| SHGC-144447 |
|
||||||||||||||||||||||||||||||||||||||||
| SHGC-37370 |
|
miRNA Target Status
| 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. |
||||||||
RNA-SEQ Expression| 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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
| High | ||||||||||||||||||
| Medium | 2364 | 1646 | 1563 | 479 | 1354 | 325 | 3456 | 967 | 2715 | 366 | 1441 | 1594 | 170 | 1 | 1184 | 1958 | 5 | 1 |
| Low | 75 | 1340 | 163 | 145 | 592 | 140 | 901 | 1230 | 1019 | 53 | 19 | 19 | 5 | 20 | 830 | 1 | 1 | |
| Below cutoff | 5 | 5 |
Nucleotide Sequences| RefSeq Transcripts | NG_047171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001297614 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001304479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350532 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350533 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350536 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001350553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_020468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_153816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_146774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_146775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_146776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_146777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_146778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_146779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011535977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017011090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024446499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF121863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AJ420561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK000362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK026479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK095380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK125063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK226097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL589666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY044865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC005110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC046520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC068589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC095419 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI458735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI463232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CB054302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA491624 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC310382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000314673 ⟹ ENSP00000313121 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000346348 ⟹ ENSP00000257769 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000369627 ⟹ ENSP00000358641 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000369635 ⟹ ENSP00000358649 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000418862 ⟹ ENSP00000391981 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000474645 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000503491 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000503608 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000504191 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000505648 ⟹ ENSP00000427380 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000506182 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000508658 ⟹ ENSP00000422814 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000508980 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000509338 ⟹ ENSP00000424302 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000513865 ⟹ ENSP00000420938 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000513869 ⟹ ENSP00000426806 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000514419 ⟹ ENSP00000425387 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000514801 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000515216 ⟹ ENSP00000425630 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001297614 ⟹ NP_001284543 | ||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
||||||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001304479 ⟹ NP_001291408 | ||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
||||||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350532 ⟹ NP_001337461 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350533 ⟹ NP_001337462 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350534 ⟹ NP_001337463 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350535 ⟹ NP_001337464 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350536 ⟹ NP_001337465 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350537 ⟹ NP_001337466 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350538 ⟹ NP_001337467 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350539 ⟹ NP_001337468 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350540 ⟹ NP_001337469 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350541 ⟹ NP_001337470 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350542 ⟹ NP_001337471 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350543 ⟹ NP_001337472 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350544 ⟹ NP_001337473 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350545 ⟹ NP_001337474 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350546 ⟹ NP_001337475 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350547 ⟹ NP_001337476 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350548 ⟹ NP_001337477 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350549 ⟹ NP_001337478 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350550 ⟹ NP_001337479 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350551 ⟹ NP_001337480 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350552 ⟹ NP_001337481 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_001350553 ⟹ NP_001337482 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_020468 ⟹ NP_065201 | ||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NM_153816 ⟹ NP_722523 | ||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NR_146774 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NR_146775 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NR_146776 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NR_146777 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NR_146778 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | NR_146779 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTGCTGTAGTTTCTTCCGGGCTCCCTACAACCTTCTTCCCTCTCCTCCGCAATACAGGCAGTTAhide sequence |
| RefSeq Acc Id: | XM_011535977 ⟹ XP_011534279 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
TCATATTTTAATGATCTTCTGGTCATTTGTTGCTGGAGTTGTCACATTCTACTGCTCACTAGGAhide sequence |
| RefSeq Acc Id: | XM_017011090 ⟹ XP_016866579 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
ACTTACAGAGGTACCTCCTTGGTGGTGTTGGATAAAATCTGGAAGAATTCTCTGGATTACCAGGhide sequence |
| RefSeq Acc Id: | XM_024446498 ⟹ XP_024302266 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
ACTTACAGAGGTACCTCCTTGGTGGTGTTGGATAAAATCTGGAAGAATTCTCTGGATTACCAGGhide sequence |
| RefSeq Acc Id: | XM_024446499 ⟹ XP_024302267 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
AAGTCGGTGGGGCGGGGACGCGAGGTGTGGATGGGGGGTCGCCTTGACCTCTGCCTCAGCCAGThide sequence |
Protein Sequences| Protein RefSeqs | NP_001284543 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001291408 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337461 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337462 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337463 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337464 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337465 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337466 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337467 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337468 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337469 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337470 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337471 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337472 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337473 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337474 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337475 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337476 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337477 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337478 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337479 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337480 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337481 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001337482 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_065201 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_722523 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011534279 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016866579 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024302266 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024302267 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD27836 | (Get FASTA) | NCBI Sequence Viewer |
| AAH05110 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH46520 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH68589 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH95419 | (Get FASTA) | NCBI Sequence Viewer | |
| AAK97796 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG58367 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW48631 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW48632 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW48633 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9Y5W7 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_065201 ⟸ NM_020468 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q9Y5W7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_722523 ⟸ NM_153816 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q9Y5W7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001291408 ⟸ NM_001304479 |
| - Peptide Label: | isoform d |
| - UniProtKB: | Q9Y5W7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCAVCGKVKCKRHRPSLhide sequence |
| RefSeq Acc Id: | NP_001284543 ⟸ NM_001297614 |
| - Peptide Label: | isoform c |
| - UniProtKB: | Q9Y5W7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | XP_011534279 ⟸ XM_011535977 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCAVCGKVKCKRHRPSLhide sequence |
| RefSeq Acc Id: | XP_016866579 ⟸ XM_017011090 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKLGLQELFPQGHSCAVCGKVKCKRHRPSLLhide sequence |
| RefSeq Acc Id: | NP_001337472 ⟸ NM_001350543 |
| - Peptide Label: | isoform p precursor |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKLGLQELFPQGHSCAVCGKVKCKRHRPSLLhide sequence |
| RefSeq Acc Id: | NP_001337468 ⟸ NM_001350539 |
| - Peptide Label: | isoform l precursor |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKLGLQELFPQGHSCAVCGKVKCKRHRPSLLhide sequence |
| RefSeq Acc Id: | NP_001337471 ⟸ NM_001350542 |
| - Peptide Label: | isoform o precursor |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCAVCGKVKCKRHRPSLhide sequence |
| RefSeq Acc Id: | NP_001337475 ⟸ NM_001350546 |
| - Peptide Label: | isoform r |
| - Sequence: |
MHLSQRDVTDDESFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKVhide sequence |
| RefSeq Acc Id: | NP_001337476 ⟸ NM_001350547 |
| - Peptide Label: | isoform s |
| - Sequence: |
MNFLKQEGAVHVLQFCLTVEEFNDRILRPELSNDEMLSLHEELQKIYKTYCLDESIDKIRFDPFhide sequence |
| RefSeq Acc Id: | NP_001337473 ⟸ NM_001350544 |
| - Peptide Label: | isoform q precursor |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCAVCGKVKCKRHRPSLhide sequence |
| RefSeq Acc Id: | NP_001337482 ⟸ NM_001350553 |
| - Peptide Label: | isoform u |
| - Sequence: |
MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLhide sequence |
| RefSeq Acc Id: | NP_001337478 ⟸ NM_001350549 |
| - Peptide Label: | isoform t |
| - Sequence: |
MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLhide sequence |
| RefSeq Acc Id: | NP_001337466 ⟸ NM_001350537 |
| - Peptide Label: | isoform j |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337463 ⟸ NM_001350534 |
| - Peptide Label: | isoform g |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337464 ⟸ NM_001350535 |
| - Peptide Label: | isoform h |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337462 ⟸ NM_001350533 |
| - Peptide Label: | isoform f |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337477 ⟸ NM_001350548 |
| - Peptide Label: | isoform t |
| - Sequence: |
MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLhide sequence |
| RefSeq Acc Id: | NP_001337465 ⟸ NM_001350536 |
| - Peptide Label: | isoform i |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337474 ⟸ NM_001350545 |
| - Peptide Label: | isoform r |
| - Sequence: |
MHLSQRDVTDDESFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKVhide sequence |
| RefSeq Acc Id: | NP_001337480 ⟸ NM_001350551 |
| - Peptide Label: | isoform t |
| - Sequence: |
MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLhide sequence |
| RefSeq Acc Id: | NP_001337467 ⟸ NM_001350538 |
| - Peptide Label: | isoform k |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337479 ⟸ NM_001350550 |
| - Peptide Label: | isoform t |
| - Sequence: |
MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLhide sequence |
| RefSeq Acc Id: | NP_001337470 ⟸ NM_001350541 |
| - Peptide Label: | isoform n |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337469 ⟸ NM_001350540 |
| - Peptide Label: | isoform m |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVThide sequence |
| RefSeq Acc Id: | NP_001337481 ⟸ NM_001350552 |
| - Peptide Label: | isoform t |
| - Sequence: |
MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLhide sequence |
| RefSeq Acc Id: | NP_001337461 ⟸ NM_001350532 |
| - Peptide Label: | isoform e |
| - Sequence: |
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRLTEVPPWWCWIKSGRILhide sequence |
| RefSeq Acc Id: | XP_024302267 ⟸ XM_024446499 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLhide sequence |
| RefSeq Acc Id: | XP_024302266 ⟸ XM_024446498 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKLGLQELFPQGHSCAVCGKVKCKRHRPSLLhide sequence |
| RefSeq Acc Id: | ENSP00000257769 ⟸ ENST00000346348 |
| RefSeq Acc Id: | ENSP00000427380 ⟸ ENST00000505648 |
| RefSeq Acc Id: | ENSP00000422814 ⟸ ENST00000508658 |
| RefSeq Acc Id: | ENSP00000424302 ⟸ ENST00000509338 |
| RefSeq Acc Id: | ENSP00000391981 ⟸ ENST00000418862 |
| RefSeq Acc Id: | ENSP00000313121 ⟸ ENST00000314673 |
| RefSeq Acc Id: | ENSP00000358649 ⟸ ENST00000369635 |
| RefSeq Acc Id: | ENSP00000358641 ⟸ ENST00000369627 |
| RefSeq Acc Id: | ENSP00000420938 ⟸ ENST00000513865 |
| RefSeq Acc Id: | ENSP00000426806 ⟸ ENST00000513869 |
| RefSeq Acc Id: | ENSP00000425387 ⟸ ENST00000514419 |
| RefSeq Acc Id: | ENSP00000425630 ⟸ ENST00000515216 |
Promoters| RGD ID: | 7208619 | ||||||||
| Promoter ID: | EPDNEW_H10055 | ||||||||
| Type: | initiation region | ||||||||
| Name: | SNX14_1 | ||||||||
| Description: | sorting nexin 14 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H10056 | ||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
| Position: |
|
| RGD ID: | 7208623 | ||||||||
| Promoter ID: | EPDNEW_H10056 | ||||||||
| Type: | initiation region | ||||||||
| Name: | SNX14_2 | ||||||||
| Description: | sorting nexin 14 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H10055 | ||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
| Position: |
|
| RGD ID: | 6804054 | ||||||||
| Promoter ID: | HG_KWN:54263 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
| Transcripts: | ENST00000314673, ENST00000346348, ENST00000369628, UC003PKT.1 | ||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000625883] | Chr6:85572305 [GRCh38] Chr6:86282023 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000170502] | Chr6:85513857 [GRCh38] Chr6:86223575 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NM_153816.2(SNX14):c.1108+1181_2108-2342del | deletion | Spinocerebellar ataxia, autosomal recessive 20 [RCV000170503] | Chr6:6q14.3 | pathogenic |
| NM_153816.6(SNX14):c.645dup (p.Glu216fs) | duplication | Spinocerebellar ataxia, autosomal recessive 20 [RCV000170504] | Chr6:85549868..85549869 [GRCh38] Chr6:86259586..86259587 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NM_153816.6(SNX14):c.1894+1G>T | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000170505] | Chr6:85530191 [GRCh38] Chr6:86239909 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000170507] | Chr6:85567567 [GRCh38] Chr6:86277285 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) | deletion | Spinocerebellar ataxia, autosomal recessive 20 [RCV000170508]|not provided [RCV001093187] | Chr6:85508043 [GRCh38] Chr6:86217761 [GRCh37] Chr6:6q14.3 |
pathogenic |
| GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 | copy number loss | See cases [RCV000052192] | Chr6:82569098..93753476 [GRCh38] Chr6:83278815..94463194 [GRCh37] Chr6:83335534..94519915 [NCBI36] Chr6:6q14.1-16.1 |
pathogenic |
| NM_020468.5(SNX14):c.1126C>T (p.Gln376Ter) | single nucleotide variant | Malignant melanoma [RCV000067488] | Chr6:85543611 [GRCh38] Chr6:86253329 [GRCh37] Chr6:86310048 [NCBI36] Chr6:6q14.3 |
not provided |
| NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000170506] | Chr6:85543737 [GRCh38] Chr6:86253455 [GRCh37] Chr6:6q14.3 |
pathogenic |
| GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 | copy number loss | See cases [RCV000135773] | Chr6:83838303..98822313 [GRCh38] Chr6:84548022..99270189 [GRCh37] Chr6:84604741..99376910 [NCBI36] Chr6:6q14.2-16.1 |
pathogenic |
| GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 | copy number loss | See cases [RCV000136757] | Chr6:85370716..90669793 [GRCh38] Chr6:86080434..91379512 [GRCh37] Chr6:86137153..91436233 [NCBI36] Chr6:6q14.3-15 |
pathogenic |
| GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1 | copy number loss | See cases [RCV000137766] | Chr6:84926864..87365441 [GRCh38] Chr6:85636582..88075159 [GRCh37] Chr6:85693301..88131878 [NCBI36] Chr6:6q14.3-15 |
likely pathogenic |
| GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 | copy number gain | See cases [RCV000139729] | Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1 |
pathogenic |
| GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 | copy number loss | See cases [RCV000143505] | Chr6:75926199..92710793 [GRCh38] Chr6:76635916..93420511 [GRCh37] Chr6:76692636..93477232 [NCBI36] Chr6:6q14.1-16.1 |
pathogenic |
| NM_153816.6(SNX14):c.919A>G (p.Lys307Glu) | single nucleotide variant | not provided [RCV000523064] | Chr6:85547391 [GRCh38] Chr6:86257109 [GRCh37] Chr6:6q14.3 |
uncertain significance |
| NM_153816.6(SNX14):c.1897_1898delinsTT (p.Ala633Leu) | indel | not provided [RCV000735127] | Chr6:85528359..85528360 [GRCh38] Chr6:86238077..86238078 [GRCh37] Chr6:6q14.3 |
uncertain significance |
| NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) | single nucleotide variant | not provided [RCV000413946] | Chr6:85547112 [GRCh38] Chr6:86256830 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NM_153816.6(SNX14):c.1672dup (p.Thr558fs) | duplication | Abnormality of brain morphology [RCV000454285] | Chr6:85533736..85533737 [GRCh38] Chr6:86243454..86243455 [GRCh37] Chr6:6q14.3 |
likely pathogenic |
| NM_153816.6(SNX14):c.1608+1G>C | single nucleotide variant | not provided [RCV000424791] | Chr6:85536791 [GRCh38] Chr6:86246509 [GRCh37] Chr6:6q14.3 |
likely pathogenic |
| GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 | copy number loss | See cases [RCV000445666] | Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
| NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) | insertion | Spinocerebellar ataxia, autosomal recessive 20 [RCV000416984] | Chr6:85533701..85533702 [GRCh38] Chr6:86243419..86243420 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NM_153816.6(SNX14):c.2557+1G>A | single nucleotide variant | not provided [RCV000481561] | Chr6:85514069 [GRCh38] Chr6:86223787 [GRCh37] Chr6:6q14.3 |
likely pathogenic |
| NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) | deletion | not provided [RCV000485240] | Chr6:85507265..85507271 [GRCh38] Chr6:86216983..86216989 [GRCh37] Chr6:6q14.3 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6q14.3(chr6:85770403-87222520)x3 | copy number gain | See cases [RCV000510653] | Chr6:85770403..87222520 [GRCh37] Chr6:6q14.3 |
uncertain significance |
| NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000498500] | Chr6:85547112 [GRCh38] Chr6:86256830 [GRCh37] Chr6:6q14.3 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
| NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000662090] | Chr6:85514180 [GRCh38] Chr6:86223898 [GRCh37] Chr6:6q14.3 |
uncertain significance |
| GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 | copy number gain | not provided [RCV000682688] | Chr6:81261418..97796269 [GRCh37] Chr6:6q14.1-16.1 |
pathogenic |
| Single allele | deletion | not provided [RCV000677932] | Chr6:83319012..91907669 [GRCh37] Chr6:6q14.1-15 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
| NM_153816.6(SNX14):c.1809A>G (p.Ala603=) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000984899] | Chr6:85533600 [GRCh38] Chr6:86243318 [GRCh37] Chr6:6q14.3 |
uncertain significance |
| NM_153816.6(SNX14):c.868-8del | deletion | not provided [RCV000905992] | Chr6:85547558 [GRCh38] Chr6:86257276 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.516T>C (p.Phe172=) | single nucleotide variant | not provided [RCV000883208] | Chr6:85565365 [GRCh38] Chr6:86275083 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.994-5T>A | single nucleotide variant | not provided [RCV000923571] | Chr6:85547231 [GRCh38] Chr6:86256949 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.1995+5A>T | single nucleotide variant | not provided [RCV000902225] | Chr6:85528257 [GRCh38] Chr6:86237975 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.2532G>A (p.Leu844=) | single nucleotide variant | not provided [RCV000885169] | Chr6:85514095 [GRCh38] Chr6:86223813 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser) | single nucleotide variant | not provided [RCV000893992] | Chr6:85547145 [GRCh38] Chr6:86256863 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.1190A>G (p.Tyr397Cys) | single nucleotide variant | not provided [RCV000963190] | Chr6:85543679 [GRCh38] Chr6:86253397 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.9C>T (p.Pro3=) | single nucleotide variant | not provided [RCV000882723] | Chr6:85593710 [GRCh38] Chr6:86303428 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.264G>T (p.Gln88His) | single nucleotide variant | not provided [RCV000885446] | Chr6:85572372 [GRCh38] Chr6:86282090 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.418-6A>C | single nucleotide variant | not provided [RCV000887900] | Chr6:85567583 [GRCh38] Chr6:86277301 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000785947] | Chr6:85572333 [GRCh38] Chr6:86282051 [GRCh37] Chr6:6q14.3 |
likely pathogenic |
| GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1 | copy number loss | not provided [RCV001005826] | Chr6:86024761..90023713 [GRCh37] Chr6:6q14.3-15 |
pathogenic |
| NM_153816.6(SNX14):c.867+6A>C | single nucleotide variant | not provided [RCV000938679] | Chr6:85548295 [GRCh38] Chr6:86258013 [GRCh37] Chr6:6q14.3 |
benign|conflicting interpretations of pathogenicity |
| NM_153816.6(SNX14):c.561A>G (p.Pro187=) | single nucleotide variant | not provided [RCV000938710] | Chr6:85558049 [GRCh38] Chr6:86267767 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.1725del (p.Phe575fs) | deletion | Spinocerebellar ataxia, autosomal recessive 20 [RCV000984947] | Chr6:85533684 [GRCh38] Chr6:86243402 [GRCh37] Chr6:6q14.3 |
likely pathogenic |
| GRCh37/hg19 6q14.3(chr6:86155642-86252892)x1 | copy number loss | not provided [RCV000849417] | Chr6:86155642..86252892 [GRCh37] Chr6:6q14.3 |
uncertain significance |
| NM_153816.6(SNX14):c.1725dup (p.Glu576Ter) | duplication | not provided [RCV001008732] | Chr6:85533683..85533684 [GRCh38] Chr6:86243401..86243402 [GRCh37] Chr6:6q14.3 |
pathogenic |
| NC_000006.12:g.85556109_85560515del | deletion | Seizures [RCV001003859] | Chr6:86265827..86270233 [GRCh37] Chr6:6q14.3 |
likely pathogenic |
| NM_153816.6(SNX14):c.1651G>T (p.Glu551Ter) | single nucleotide variant | not provided [RCV000998657] | Chr6:85533758 [GRCh38] Chr6:86243476 [GRCh37] Chr6:6q14.3 |
likely pathogenic |
| NM_153816.6(SNX14):c.1009T>C (p.Leu337=) | single nucleotide variant | not provided [RCV000895005] | Chr6:85547211 [GRCh38] Chr6:86256929 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.2412T>G (p.Val804=) | single nucleotide variant | not provided [RCV000972149] | Chr6:85514215 [GRCh38] Chr6:86223933 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.1239C>T (p.Pro413=) | single nucleotide variant | not provided [RCV000969987] | Chr6:85543630 [GRCh38] Chr6:86253348 [GRCh37] Chr6:6q14.3 |
benign |
| NM_153816.6(SNX14):c.1074C>T (p.Gly358=) | single nucleotide variant | not provided [RCV000895296] | Chr6:85547146 [GRCh38] Chr6:86256864 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.99C>T (p.Phe33=) | single nucleotide variant | not provided [RCV000911794] | Chr6:85593620 [GRCh38] Chr6:86303338 [GRCh37] Chr6:6q14.3 |
likely benign |
| NM_153816.6(SNX14):c.1608+1G>T | single nucleotide variant | Spinocerebellar ataxia, autosomal recessive 20 [RCV000987749] | Chr6:85536791 [GRCh38] Chr6:86246509 [GRCh37] Chr6:6q14.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:14977 | AgrOrtholog |
| COSMIC | SNX14 | COSMIC |
| Ensembl Genes | ENSG00000135317 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000257769 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000313121 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000358641 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000358649 | UniProtKB/TrEMBL | |
| ENSP00000391981 | UniProtKB/TrEMBL | |
| ENSP00000420938 | UniProtKB/TrEMBL | |
| ENSP00000422814 | UniProtKB/TrEMBL | |
| ENSP00000424302 | UniProtKB/TrEMBL | |
| ENSP00000425387 | UniProtKB/TrEMBL | |
| ENSP00000425630 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000426806 | UniProtKB/TrEMBL | |
| ENSP00000427380 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000314673 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000346348 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000369627 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000369635 | UniProtKB/TrEMBL | |
| ENST00000418862 | UniProtKB/TrEMBL | |
| ENST00000505648 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000508658 | UniProtKB/TrEMBL | |
| ENST00000509338 | UniProtKB/TrEMBL | |
| ENST00000513865 | UniProtKB/TrEMBL | |
| ENST00000513869 | UniProtKB/TrEMBL | |
| ENST00000514419 | UniProtKB/TrEMBL | |
| ENST00000515216 | ENTREZGENE, UniProtKB/TrEMBL | |
| Gene3D-CATH | 3.30.1520.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000135317 | GTEx |
| HGNC ID | HGNC:14977 | ENTREZGENE |
| Human Proteome Map | SNX14 | Human Proteome Map |
| InterPro | Phox | UniProtKB/Swiss-Prot |
| Phox_assoc | UniProtKB/Swiss-Prot | |
| PX_dom_sf | UniProtKB/Swiss-Prot | |
| RGS | UniProtKB/Swiss-Prot | |
| RGS_sf | UniProtKB/Swiss-Prot | |
| SNX14_PX | UniProtKB/Swiss-Prot | |
| SNX14_RGS | UniProtKB/Swiss-Prot | |
| Sorting_nexin_C | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:57231 | UniProtKB/Swiss-Prot |
| NCBI Gene | 57231 | ENTREZGENE |
| OMIM | 616105 | OMIM |
| 616354 | OMIM | |
| Pfam | Nexin_C | UniProtKB/Swiss-Prot |
| PF00787 | UniProtKB/Swiss-Prot | |
| PXA | UniProtKB/Swiss-Prot | |
| RGS | UniProtKB/Swiss-Prot | |
| PharmGKB | PA129840867 | PharmGKB |
| PROSITE | PS50195 | UniProtKB/Swiss-Prot |
| PXA | UniProtKB/Swiss-Prot | |
| RGS | UniProtKB/Swiss-Prot | |
| SMART | PXA | UniProtKB/Swiss-Prot |
| RGS | UniProtKB/Swiss-Prot | |
| SM00312 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF48097 | UniProtKB/Swiss-Prot |
| SSF64268 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.485871 | ENTREZGENE |
| UniProt | D6RBA7_HUMAN | UniProtKB/TrEMBL |
| D6RDA6_HUMAN | UniProtKB/TrEMBL | |
| D6RDH9_HUMAN | UniProtKB/TrEMBL | |
| D6REK1_HUMAN | UniProtKB/TrEMBL | |
| D6RJG9_HUMAN | UniProtKB/TrEMBL | |
| E2QRM8_HUMAN | UniProtKB/TrEMBL | |
| H0Y926_HUMAN | UniProtKB/TrEMBL | |
| Q5JRQ0_HUMAN | UniProtKB/TrEMBL | |
| Q9Y5W7 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | B4DI55 | UniProtKB/Swiss-Prot |
| Q4VBR3 | UniProtKB/Swiss-Prot | |
| Q5TCF9 | UniProtKB/Swiss-Prot | |
| Q5TCG0 | UniProtKB/Swiss-Prot | |
| Q6NUI7 | UniProtKB/Swiss-Prot | |
| Q6PI37 | UniProtKB/Swiss-Prot | |
| Q9BSD1 | UniProtKB/Swiss-Prot |
 |
| More on SNX14 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1322101 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2020-06-18 |
| Status: | ACTIVE |
 |
 |
 |
 |
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
