Family With Sequence Similarity 161, Member A

Alternative Names

  • FAM161A

Associated Diseases

Retinitis Pigmentosa 28
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OMIM Number

613596

NCBI Gene ID

84140

Uniprot ID

Q3B820

Length

53,821 bases

No. of Exons

11

No. of isoforms

3

Protein Name

Protein FAM161A

Molecular Mass

76752 Da

Amino Acid Count

660

Genomic Location

chr2:61,800,240-61,854,060

Gene Map Locus
2p15

Description

This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001201543.2:c.685C>TSaudi ArabiaNC_000002.12:g.61840319G>APathogenicPathogenicRetinitis Pigmentosa 28NG_028125.2:g.18741C>T; NM_001201543.2:c.685C>T; NP_001188472.1:p.Arg229Ter52846685035
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