Human (GRCh38.p14)
Description

intraflagellar transport 172 [Source:HGNC Symbol;Acc:HGNC:30391]

Gene Synonyms

BBS20, NPHP17, OSM-1, SLB, WIM

Location

Chromosome 2: 27,444,377-27,489,805 reverse strand.

GRCh38:CM000664.2

About this gene

This gene has 34 transcripts (splice variants), 222 orthologues, 1 paralogue and is associated with 9 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000260570.8IFT172-20153951749aaENSP00000260570.3
 
Protein coding
CCDS1755Q9UG01-1 NM_015662.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000675690.1IFT172-22553401727aaENSP00000502283.1
 
Protein coding
CCDS92725A0A6Q8PGJ2 -GENCODE basic
ENST00000359466.10IFT172-2022207532aaENSP00000352443.6
 
Protein coding
Q9UG01-3 -GENCODE basicTSL:1
ENST00000416524.2IFT172-2031982511aaENSP00000407408.2
 
Protein coding
F5GZ56 -GENCODE basicTSL:2
ENST00000675728.1IFT172-2261920511aaENSP00000501700.1
 
Protein coding
F5GZ56 -GENCODE basic
ENST00000443889.1IFT172-205690196aaENSP00000404082.1
 
Protein coding
H7C252 -TSL:2CDS 5' incomplete
ENST00000674701.1IFT172-2206271532aaENSP00000502275.1
 
Nonsense mediated decay
Q9UG01-3 --
ENST00000674932.1IFT172-222613398aaENSP00000501967.1
 
Nonsense mediated decay
A0A6Q8PFU9 --
ENST00000675410.1IFT172-2235901715aaENSP00000502030.1
 
Nonsense mediated decay
A0A6Q8PG03 --
ENST00000674824.1IFT172-2215391536aaENSP00000501824.1
 
Nonsense mediated decay
A0A6Q8PFK2 --
ENST00000676119.1IFT172-2335113191aaENSP00000501701.1
 
Nonsense mediated decay
A0A6Q8PFB6 --
ENST00000675729.1IFT172-2273222455aaENSP00000502319.1
 
Nonsense mediated decay
A0A6Q8PGK4 --
ENST00000675963.1IFT172-2312585126aaENSP00000502708.1
 
Nonsense mediated decay
A0A6Q8PHF0 --
ENST00000509128.5IFT172-2171723324aaENSP00000427255.1
 
Nonsense mediated decay
H0YAI8 -TSL:1CDS 5' incomplete
ENST00000450564.1IFT172-20676096aaENSP00000399017.1
 
Nonsense mediated decay
H7C186 -TSL:3CDS 5' incomplete
ENST00000420854.1IFT172-204569162aaENSP00000398633.1
 
Nonsense mediated decay
H7C161 -TSL:5CDS 5' incomplete
ENST00000507184.5IFT172-2165565No protein-
 
Retained intron
--TSL:5
ENST00000676300.1IFT172-2344094No protein-
 
Retained intron
---
ENST00000675826.1IFT172-2293395No protein-
 
Retained intron
---
ENST00000476264.7IFT172-2103005No protein-
 
Retained intron
--TSL:2
ENST00000675618.1IFT172-2242960No protein-
 
Retained intron
---
ENST00000676101.1IFT172-2322941No protein-
 
Retained intron
---
ENST00000675925.1IFT172-2302658No protein-
 
Retained intron
---
ENST00000511842.5IFT172-2181832No protein-
 
Retained intron
--TSL:5
ENST00000674594.1IFT172-2191685No protein-
 
Retained intron
---
ENST00000475476.2IFT172-208781No protein-
 
Retained intron
--TSL:2
ENST00000675757.1IFT172-228718No protein-
 
Retained intron
---
ENST00000489492.1IFT172-214653No protein-
 
Retained intron
--TSL:3
ENST00000494163.1IFT172-215607No protein-
 
Retained intron
--TSL:3
ENST00000476693.1IFT172-211517No protein-
 
Retained intron
--TSL:5
ENST00000480892.1IFT172-213477No protein-
 
Retained intron
--TSL:3
ENST00000479419.1IFT172-212420No protein-
 
Retained intron
--TSL:3
ENST00000475909.1IFT172-209402No protein-
 
Retained intron
--TSL:5
ENST00000463613.1IFT172-207360No protein-
 
Retained intron
--TSL:3