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Human (GRCh37.p13)
Description

nephronophthisis 1 (juvenile) [Source:HGNC Symbol;Acc:7905]

Gene Synonyms

JBTS4, NPH1, SLSN1

Location

Chromosome 2: 110,879,888-110,962,643 reverse strand.

GRCh37:CM000664.1

About this gene

This gene has 11 transcripts (splice variants) and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000316534.4NPHP1-0023756733aaENSP00000313169.4
 
Protein coding
CCDS2086O15259 -GENCODE basic
ENST00000393272.3NPHP1-0012752732aaENSP00000376953.3
 
Protein coding
CCDS46385O15259 NM_000272
NM_207181
NP_000263
NP_997064
GENCODE basic
ENST00000445609.2NPHP1-0112513677aaENSP00000389879.2
 
Protein coding
CCDS46386B4DQY0 O15259 NM_001128178
NP_001121650
GENCODE basic
ENST00000417665.1NPHP1-0072246711aaENSP00000402176.1
 
Protein coding
C9JNM7 -GENCODE basic
ENST00000355301.4NPHP1-0041932614aaENSP00000347452.4
 
Protein coding
CCDS46384O15259 NM_001128179
NP_001121651
GENCODE basic
ENST00000418527.1NPHP1-003742121aaENSP00000412351.1
 
Protein coding
C9J082 -GENCODE basic
ENST00000422492.1NPHP1-01035747aaENSP00000392562.1
 
Protein coding
--CDS 5' incomplete
ENST00000449600.1NPHP1-00848645aaENSP00000406453.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000496524.1NPHP1-00510006No protein-
 
Retained intron
---
ENST00000461707.1NPHP1-0063822No protein-
 
Retained intron
---
ENST00000493051.1NPHP1-009577No protein-
 
Retained intron
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Gene-based displays