LOCUS AB684331 141 bp DNA linear HUM 03-JUN-2021 DEFINITION Homo sapiens RP1L1 gene for retinitis pigmentosa 1-like 1 protein, complete cds, note: one 48 base pair repeat of RP1L1 length polymorphism. ACCESSION AB684331 VERSION AB684331.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 141) AUTHORS Kameya,S., Takahashi,H., Kabuto,T. and Yamaki,K. TITLE Direct Submission JOURNAL Submitted (22-NOV-2011) to the DDBJ/EMBL/GenBank databases. Contact:Shuhei Kameya Nippon Medical School Chiba Hokusoh Hospital, Dept. of Ophthalmology; 1715 Kamagari, Inzai, Chiba 2701694, Japan REFERENCE 2 AUTHORS Kabuto,T., Takahashi,H., Goto-Fukuura,Y., Igarashi,T., Akahori,M., Kameya,S., Iwata,T., Mizota,A., Yamaki,K., Miyake,Y. and Takahashi,H. TITLE A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms JOURNAL Mol. Vis. 18, 1031-1039 (2012) COMMENT FEATURES Location/Qualifiers source 1..141 /chromosome="8" /country="Japan" /db_xref="taxon:9606" /isolation_source="occult macular dystrophy patient" /map="8p23" /mol_type="genomic DNA" /organism="Homo sapiens" /PCR_primers="fwd_seq: aaacacagtgcaagaagagg, rev_seq: aggctcaagctgggagccactctgc" CDS <1..>141 /codon_start=1 /gene="RP1L1" /product="retinitis pigmentosa 1-like 1 protein" /protein_id="BAM08936.1" /transl_table=1 /translation="TEGEGLQEEAVQLEETKTEEGLQEEVVQLEGTKETEGEGQQEEE AQL" variation 52..99 /inference="similar to sequence:INSD:AC104964.12" /note="one 48 base pair repeat of RP1L1 length polymorphism" BASE COUNT 60 a 16 c 52 g 13 t ORIGIN 1 acagaaggag aagggctgca agaagaggcg gtgcagttag aggaaactaa aacagaagaa 61 gggctgcaag aagaggtggt gcagttagag ggaactaaag aaacagaagg agaaggacag 121 caagaagaag aggcgcagtt a //