WDR83 Opposite Strand

Alternative Names

WDR83OS
Chromosome 19 Open Reading Frame 56
C19ORF56
Asterix

Length

1,343 bases

No. of Exons

No. of isoforms

Protein Name

PAT complex subunit Asterix

Molecular Mass

12068 Da

Amino Acid Count

106

Genomic Location

chr19:12,668,073-12,669,415

Gene Map Locus

19p13.13

Description

Enables protein folding chaperone. Involved in protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane. [From NCBI Gene]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_016145.4:c.156+1G>T	Saudi Arabia	NC_000019.10:g.12669127C>A	Uncertain Significance	Likely Pathogenic	Cholestasis, Progressive Familial Intrahepatic, 1	NG_015814.1:g.7324C>A; NM_016145.4:c.156+1G>T; NP_057229.1:p.?	1400540411	1329852

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR83OS

Contributors

Sayeeda Hana: 19.07.2024

Edit History

Sayeeda Hana: 19.07.2024

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