LOCUS HM481256 928 bp mRNA linear HUM 25-JUL-2016 DEFINITION Homo sapiens FAM83H variant 2 (FAM83H) mRNA, complete cds, alternatively spliced. ACCESSION HM481256 VERSION HM481256.1 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 928) AUTHORS Yoshida,K. and Mochida,Y. TITLE Novel exon in Fam83h, a causative gene for Amelogenesis Imperfecta JOURNAL Unpublished REFERENCE 2 (bases 1 to 928) AUTHORS Yoshida,K. and Mochida,Y. TITLE Direct Submission JOURNAL Submitted (09-JUN-2010) Department of Periodontology and Oral Biology, Boston University, 700 Albany Street, Boston, MA 02118, USA FEATURES Location/Qualifiers source 1..928 /db_xref="H-InvDB:HIT000649841" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /PCR_primers="fwd_name: hFAM83H-exon1b2F, fwd_seq: gctggtttcaaactcctggcttcaagc, rev_name: hFAM83H-ex3endR, rev_seq: ccacgtggtgcaggttgacacggcacttg" /PCR_primers="fwd_name: hFAM83H-exon1extF2, fwd_seq: cagggagtggctgccggaccgac, rev_name: hFAM83H-ex2-304R, rev_seq: gtggctctcgggtaacatactgcgg" gene 1..>928 /gene="FAM83H" CDS 319..>928 /gene="FAM83H" /note="alternatively spliced" /codon_start=1 /product="FAM83H variant 2" /protein_id="AEB00835.1" /translation="MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYS RFLATEGAPDFLCPEELEHVSRHLRPPQYVTREPPEGSLLDVDMDGSSGTYWPVNSDQ AVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEARRMIRSAQQVVAVVMDMFTD VDLLSEVLEAAARRVPVYILLDEMNAQHFLDMGRQVPCQPAHV" BASE COUNT 162 a 311 c 276 g 179 t ORIGIN 1 gctggtttca aactcctggc ttcaagcagt cctcctgcct cagcctccca gagaaaggag 61 agacagggct gggatacctg tgccccagcc ctctgccagt gtcccctcag ctaggggcat 121 cctagggtct gggttgctct ctgtgagcct ggttcggctg gtgccctgga aggcctcctg 181 ggcatgggct aaactccagc ctacccaagt cactgacggc cctttccaca gtgtgtccat 241 gctcgagggt aggagtggtc ccagtgcccc cacccctagt catgtgtctc cctgcccctc 301 caggcccctg gccccaacat ggcccgtcgc tctcagagct cctcgcaggg ggacaaccca 361 ctggcacccg ggtacctgcc gcctcactac aaagagtact accgcctggc ggtggatgca 421 ctggccgagg gtggctcgga ggcctacagc cgcttcctcg ctaccgaggg ggcaccagac 481 ttcctgtgcc ctgaagagct ggaacatgtg agccgacacc ttcggcctcc gcagtatgtt 541 acccgagagc cacctgaagg cagccttctc gacgtggaca tggatggctc ctcgggtaca 601 tactggccag tgaactcaga ccaggccgtg cctgagcttg atttgggctg gcctctgacc 661 ttcggcttcc agggcaccga ggtgaccacc ttggtgcagc caccgccccc cgacagcccc 721 agtatcaagg atgaggcccg caggatgatc cgttccgccc agcaggtggt ggccgtggtg 781 atggacatgt tcactgatgt ggacctgctc agcgaagtgc tggaggccgc ggcccgtcgg 841 gtcccagtct acatcctgct ggatgagatg aacgcgcagc acttcctgga catgggccga 901 caagtgccgt gtcaacctgc acacgtgg //