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2020-10-24 06:38:19, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_022780               6201 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens required for meiotic nuclear division 5 homolog A (S.
            cerevisiae) (RMND5A), mRNA.
ACCESSION   NM_022780
VERSION     NM_022780.3  GI:203097875
KEYWORDS    RefSeq.
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 6201)
  AUTHORS   Vogel,T.W., Manjila,S. and Cohen,A.R.
  TITLE     Novel neurodevelopmental disorder in the case of a giant
            occipitoparietal meningoencephalocele
  JOURNAL   J Neurosurg Pediatr 10 (1), 25-29 (2012)
   PUBMED   22681319
  REMARK    GeneRIF: Duplications of this region involving RMND5A, whose
            product contains a C-terminal to lis homology (LisH) domain, have
            not previously been associated with a defined phenotype but may
            present insight into encephalocele formation.
REFERENCE   2  (bases 1 to 6201)
  AUTHORS   Kobayashi,N., Yang,J., Ueda,A., Suzuki,T., Tomaru,K., Takeno,M.,
            Okuda,K. and Ishigatsubo,Y.
  TITLE     RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat
            proteins ARMC8alpha and ARMC8beta are components of the CTLH
            complex
  JOURNAL   Gene 396 (2), 236-247 (2007)
   PUBMED   17467196
  REMARK    GeneRIF: RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and
            p44CTLH form complexes in cells.
REFERENCE   3  (bases 1 to 6201)
  AUTHORS   Bowzard,J.B., Cheng,D., Peng,J. and Kahn,R.A.
  TITLE     ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs
  JOURNAL   J. Biol. Chem. 282 (24), 17568-17580 (2007)
   PUBMED   17452337
REFERENCE   4  (bases 1 to 6201)
  AUTHORS   Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
            Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
            McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
            Dunham,I., Hill,D.E. and Vidal,M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
REFERENCE   5  (bases 1 to 6201)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res. 14 (7), 1324-1332 (2004)
   PUBMED   15231748
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK023972.1, BC047668.1, BC012165.1, AC064848.5 and BU620245.1.
            On Sep 17, 2008 this sequence version replaced gi:19923839.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012165.1, AK022815.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-369               AK023972.1         1-369
            370-797             BC047668.1         300-727
            798-3247            BC012165.1         519-2968
            3248-5546           AC064848.5         30938-33236         c
            5547-6201           BU620245.1         1-655               c
FEATURES             Location/Qualifiers
     source          1..6201
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..6201
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /note="required for meiotic nuclear division 5 homolog A
                     (S. cerevisiae)"
                     /db_xref="GeneID:64795"
                     /db_xref="HGNC:25850"
                     /db_xref="HPRD:07841"
     exon            1..519
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       12
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372986023"
     variation       131
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2674821"
     variation       163
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111925513"
     variation       172
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:930962"
     variation       313
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:930961"
     variation       313
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:71222447"
     variation       370
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76239019"
     CDS             378..1553
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /note="C-terminal to LisH motif, 44 kDa; GID complex
                     subunit 2 homolog A"
                     /codon_start=1
                     /product="protein RMD5 homolog A"
                     /protein_id="NP_073617.1"
                     /db_xref="GI:12232469"
                     /db_xref="CCDS:CCDS1991.1"
                     /db_xref="GeneID:64795"
                     /db_xref="HGNC:25850"
                     /db_xref="HPRD:07841"
                     /translation="
MDQCVTVERELEKVLHKFSGYGQLCERGLEELIDYTGGLKHEILQSHGQDAELSGTLSLVLTQCCKRIKDTVQKLASDHKDIHSSVSRVGKAIDKNFDSDISSVGIDGCWQADSQRLLNEVMVEHFFRQGMLDVAEELCQESGLSVDPSQKEPFVELNRILEALKVRVLRPALEWAVSNREMLIAQNSSLEFKLHRLYFISLLMGGTTNQREALQYAKNFQPFALNHQKDIQVLMGSLVYLRQGIENSPYVHLLDANQWADICDIFTRDACALLGLSVESPLSVSFSAGCVALPALINIKAVIEQRQCTGVWNQKDELPIEVDLGKKCWYHSIFACPILRQQTTDNNPPMKLVCGHIISRDALNKMFNGSKLKCPYCPMEQSPGDAKQIFF
"
     misc_feature    717..815
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /note="Lissencephaly type-1-like homology motif; Region:
                     LisH; smart00667"
                     /db_xref="CDD:128913"
     misc_feature    834..1268
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /note="CTLH/CRA C-terminal to LisH motif domain; Region:
                     CLTH; pfam10607"
                     /db_xref="CDD:220824"
     misc_feature    837..1007
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /note="C-terminal to LisH motif; Region: CTLH; smart00668"
                     /db_xref="CDD:128914"
     misc_feature    1002..1283
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /note="CT11-RanBPM; Region: CRA; smart00757"
                     /db_xref="CDD:214806"
     misc_feature    1347..1505
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /note="RING-type zinc-finger, LisH dimerisation motif;
                     Region: zf-RING_LisH; pfam13445"
                     /db_xref="CDD:222135"
     variation       422
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150204526"
     variation       434
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2674824"
     variation       482
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149538803"
     variation       491
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2969569"
     variation       491
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:193285995"
     variation       501
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:185613013"
     exon            520..662
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       588
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368484561"
     variation       608
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138849853"
     variation       609
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199760511"
     variation       616
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200755725"
     exon            663..797
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       680
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201728271"
     variation       683
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201698250"
     variation       737
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:10186663"
     variation       796
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367596649"
     exon            798..898
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       836
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376719097"
     variation       853
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35313910"
     exon            899..1065
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       934
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201043371"
     variation       995
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146868518"
     variation       1056
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143570524"
     exon            1066..1231
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       1142
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371831525"
     variation       1151
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376429471"
     variation       1193
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201455224"
     exon            1232..1334
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       1253
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375806443"
     variation       1278
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145345215"
     variation       1283
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199868996"
     exon            1335..1489
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       1417
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151248752"
     variation       1464
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146194138"
     exon            1490..6183
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /inference="alignment:Splign:1.39.8"
     variation       1537
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202224251"
     variation       1562
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:367811007"
     variation       1570
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:146821931"
     variation       1595
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372034561"
     variation       1599
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75434387"
     variation       1634
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:182538967"
     variation       1803
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140575393"
     variation       1845
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:35041827"
     variation       1857
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115159418"
     variation       1878
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:145641005"
     STS             2052..2246
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="A007J05"
                     /db_xref="UniSTS:23416"
     variation       2065
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:138266967"
     STS             2136..2271
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="RH16449"
                     /db_xref="UniSTS:6925"
     STS             2196..2321
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="SHGC-34184"
                     /db_xref="UniSTS:2762"
     variation       2272
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:187710633"
     variation       2277
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1046613"
     variation       2546
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115947578"
     variation       2560
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:116278864"
     variation       2639
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374066922"
     variation       2698
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375718885"
     variation       2747
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192330527"
     variation       2778
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182567565"
     variation       2828
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:187230426"
     variation       3082
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:192089046"
     STS             3157..3304
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="WIAF-2105"
                     /db_xref="UniSTS:44821"
     variation       3189
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:62148510"
     variation       3210
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:184629601"
     variation       3234
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:141836040"
     variation       3248
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1193"
     variation       3280
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369929031"
     STS             3326..3451
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="SHGC-33869"
                     /db_xref="UniSTS:24979"
     variation       3363
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116674878"
     variation       3413..3414
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="ta"
                     /db_xref="dbSNP:372121579"
     variation       3424..3425
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="tt"
                     /db_xref="dbSNP:71723775"
     variation       3459..3462
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="tttc"
                     /db_xref="dbSNP:144373693"
     variation       3462
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201970331"
     variation       3466
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200411671"
     variation       3468..3470
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="ttc"
                     /db_xref="dbSNP:368203284"
     variation       3470
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="c"
                     /replace="ctt"
                     /db_xref="dbSNP:57688740"
     variation       3470
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:73947264"
     variation       3475
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112110980"
     variation       3481
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="ttt"
                     /db_xref="dbSNP:66799183"
     variation       3490..3492
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="tta"
                     /db_xref="dbSNP:377203203"
     STS             3546..3694
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="RH66712"
                     /db_xref="UniSTS:32675"
     variation       3571
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373555810"
     variation       3591
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189444426"
     variation       3644
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114642792"
     variation       3699
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369979077"
     variation       3725
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:13297"
     variation       3741
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:193216041"
     variation       3844
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376773010"
     variation       3895
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150176290"
     variation       3905
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185579243"
     variation       3908
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:189352537"
     variation       3956
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376979611"
     variation       3961
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:111910023"
     variation       4047
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1049457"
     variation       4124
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372784969"
     variation       4137
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:180938040"
     variation       4138
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185411748"
     variation       4211..4212
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="cga"
                     /db_xref="dbSNP:201019561"
     variation       4216
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1049458"
     variation       4303
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188660961"
     variation       4423..4425
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="cta"
                     /db_xref="dbSNP:200283992"
     variation       4489
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145980731"
     variation       4547
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181548256"
     variation       4563
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138632932"
     variation       4594
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:11547282"
     variation       4640
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112471751"
     variation       4641
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113756754"
     variation       4657
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370503306"
     variation       4701
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149303578"
     variation       4762..4763
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:35615814"
     variation       4774
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147395721"
     variation       4865
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11547281"
     variation       4986
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:76086333"
     variation       4992..4997
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="tatctc"
                     /db_xref="dbSNP:112514109"
     variation       4993..4998
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="atctct"
                     /db_xref="dbSNP:61511565"
     variation       5055
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:186026336"
     variation       5070
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139567715"
     variation       5141
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:116784234"
     variation       5210
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368384875"
     variation       5248
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:73947265"
     variation       5264
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:113847749"
     variation       5381
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143473089"
     variation       5416
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371473322"
     variation       5453
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:147165179"
     variation       5484..5485
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:199890853"
     STS             5556..5900
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="RH41923"
                     /db_xref="UniSTS:70644"
     variation       5711
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148621861"
     variation       5717
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142051771"
     variation       5773
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182208069"
     variation       5826
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:187299546"
     STS             5882..6090
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="A002T29"
                     /db_xref="UniSTS:39808"
     variation       5944
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151123220"
     STS             5946..6145
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /standard_name="D2S2130"
                     /db_xref="UniSTS:154201"
     variation       6033..6037
                     /gene="RMND5A"
                     /gene_synonym="CTLH; GID2; GID2A; p44CTLH; RMD5"
                     /replace=""
                     /replace="tgata"
                     /db_xref="dbSNP:145664621"
ORIGIN      
ctccccccagtcggcggcgcttggtgccgcccgggagaaccaggtcatcggtcggttcccgtgaaaacaaaaacaatcggccgcgccgtcgcaggcacccgaacgtcgcgagcggggcctggggacgcggagccgagtgcagcgagcgaacgggagcagcggcgactcgccggggggctagggcgccatggggcaggcgggctccggctgcgcggggctcccccggcgccgcggctagtgcgcccgccgcctcggccgcctcagcctcccgcgccgcccgcttggggaacgaggagcaggacgcggcctcggtggggcccgggccgaacggctgcggacacctgggcgccgaggagccgagcgccgccgcctccggcatggatcagtgcgtgacggtggagcgcgagctggagaaggtgctgcacaagttctcaggctacgggcagctgtgcgagcgcggcctggaggagctcatcgactacaccggcggcctcaagcacgagatcctgcagagccacggccaagatgctgaattatcagggacactttcacttgttttgacacagtgctgtaaaagaataaaggatactgttcaaaaattggcctccgaccacaaagacatccacagcagtgtttctcgggttggaaaagccattgataagaattttgattctgacattagcagtgtgggaatagatggctgctggcaggcagacagccaaaggcttctcaatgaggtgatggtggagcacttctttcgacaaggaatgctggatgtggctgaggagctctgtcaggaatctggtctttctgtagacccaagtcagaaggaaccatttgtggagttaaatagaatattagaggcattaaaggtcagagttctgagacctgctctggagtgggcagtgtcaaaccgggaaatgcttatagctcaaaacagctccttggaatttaagctacacagactgtattttattagcttgttaatgggtggaaccacaaatcagcgagaggcattacaatatgctaaaaattttcagccatttgccctaaatcatcaaaaagacattcaggttttgatgggaagccttgtgtacctgagacaagggattgagaactcaccatatgttcacctacttgatgcaaaccagtgggctgatatctgtgacatctttacacgggatgcttgtgccctcctggggctctccgtggagtcccctctcagtgtcagtttctcagcaggttgtgtggcgctgccagctttaattaacatcaaagccgtgattgaacagaggcagtgtactggagtttggaaccagaaagatgaattacctattgaagtggaccttggtaaaaagtgctggtatcactctatatttgcctgccccattcttcgtcagcaaacaacagataacaatccacccatgaaattggtctgtggtcatattatatcaagagatgccctgaataaaatgtttaatggtagcaaattaaaatgtccctactgtccaatggaacaaagtccaggagatgccaaacagatatttttctgaagagataactttagtttgcaatttgtaagtgaaactgaatcgtgggtgcatttcagaagagaacgttccatataatgcagctaaccaaggactcctgtgtttctataagctaatgctccagaaactttgccaacctgttagtgtacacacactgaggggagtgctcccggtgaatattatcatagggctttattatattcttggtcttcatttctgatcaagtaaatacaccagcagttgtcattcaatgcaggtttttgtacttaattatatggtgatttttttactttttaagagcagaaacggaaattgacctccccgccatgtgtttaatattcctcctgcttttacttttgtcattttcttgataatcgtaagccttgagagtgtttgtgaaaaagttttatttcctgttatgtatacataattaaatgaaaattcttcagaaaaagtttgataaattgaattgtggttatgaaactaatttgcatttttatttgcttaagaaagaaagctgtgatagattccagatatgctttttgatgttttcctctgctccagctccaagaagtcagcacacctgcattttagctctgcatgcagccccagcaggctgcgtgtttaagaatttcattgtttaactggctggtgtgagaagtcttccgttagcatagagtggaaggagtactattgtttggttgggtttttgtttgtttgttttttgtttttgcttttattgccaagaggtgcttgttttaaaagtatgtttaataaaatgaaattctaaagttagaagtgttcttaagttgatatttactctcttggtcttggtagccctattatatcattgcagacacagtgttgtgcatgtgtgtattgtatatgtgcaccagcatcaaacattgtgtatctggaaggaaagcagcatgttccagttctaaaatgcagttaccagacccatcactttaaatccttaaagttagaagctagcaaattttctgtagtgcagaacgtttattgctgtttttgtgtttgaatagtataatgtttgatgcctctcttctgcaaagcgtatcatctcattgactgtgaatctgtatattattctgatggatacagataatgatcttttctcttgtgaggtatcttcatttatgcactgtccaaaaatagccatgtgtaagagtctttctgtatgacgaactacatggaaaagacttctgtggacataattctgaccgaaacccatgaagttacttcagtataagaagaacgttacacggaaatcaccaaatattttgcaactttatttcttctgacatggagtgaacatcaataggaatactttcaaagaaaatgaaaacacagaagcaaagagaaatgtggcacttcacattttaaactacagatggacttggtttgagggagggggaatcacagatttggtgctaagttaattagaaactggcagcgttttacagtagtacaccagcctggatgttttttctaaaatgtttacctgggagagctggggtttgtttgtgaggagaaagagtactgtggaaaacctctgcttgagtaccatgtggccaggcctatgtggatggctactccgtgctgtgcggcttcaccagcggttgggattggcccagcttggagtgcttgtgtggtccaacctcagtctggccccatagcgacttttgccccatgattctgcttcactgttggaatcctctttgaagttccccctctctttgctaaagcagtgaaggaagagaacagagacaaactctttggactgtgaaagagaaggtagagaattccaggcaacagtctgaccaagggtgtaaaccagtttattatatatatatttttcctttgaattaaaacctagagtgttgtatttttctttctttctttttttttttttttttttttaccctttttctccttaggccaagtttagcttattcttatctttccacccaaacacctacacaacgtttaggcttcctgtaaggtttgaatgagacagatgtactctgaaggctggtggtaaatgtgtttgatgaccagactcttcatacagtcggcttgggccactttaaaggacaaaagccagagctcagctttatccctctcccagtgctgggagccaaaaaactgttgacggttttttgtgcagctcaagaaaactttgaaaagaacatgctttaactgaagcattggactctgcagctttctgtgtaaggcccgtgtactcccactgggcagggtgaggaccaaaaatctgaaactcttatgaatctgacatattatatggaaattatatcttgtgaccgtcttcaagtgcatggacttaaaattcatgagagactaaatgtgagggagaggtggatttaaagaggccagaccttaaccaaagatgctgagatacagcattctgtcccccctgccctagaaactccataaatgctgtcacaaccctatcatcgctgatgctttctgcatgtcagcagtccaggaggatgctttttgtctctctttgcctccactttacaaaagataatatgatagaggcaacgtttataacagtcacatttaattataatgtacatcaaaggcagaatttcagaatggtttcttaaatttccttgggaaccgtttccacatatcagttatagacaaaggccatgggactatgctaaaccaataaaaccttattagcaaatctttagattctgacttagccagagcatctgagtgttcaagtacagttttacagtggctaaggttgtctcttgatcttttttctccgttgtgtgatcacagatgctatttctgttttattggtgattatacgagacttctaatacataaatgaacgggtattggtgcctctttattttaaaaaatttgaagaaaagagccacctcatattcatagggtgtgtattttttgagtgtgagcatttaattgaaaataagaaagctatgaagtaaatgttaacttctctgtagcagctaatgcatagagacactaaaacccacaccacattttgtgggaaatgaggatcctgatcctcttttgtcctctccaggtagtctcgcaggttatgcagcttaagttcagtcttctttatgctgcgattgatttccacctcagtggcttagcctttgggacagtggatactgcaacagccaagaactcttggttatccgcacaagctgctggtagactacattagccctctggttttccagctcaacctctgataaagtggactgagagccacgctgctcagtctgtttcgtcagccgactcaggttattttcagggaaggcatggaggcatagtttggttagtttcatcactaggatgtataaggtgacgacacaaaccaaatacctttctttcatcacttaactatacgtactttatctctggtaacactagaatgctgtggtcttgagggaatgttagcaaggaacacatagaagatttggtgtttcataagcctgtctaggtgtggcaggttttgtgtggtacactgatgtttaccataagcaggtacaagcttcatgaaccgttcttaatgaactataattgaatagataccaaaaatagaatgacaaatgtattttaatagcagatgaggcagttttaggatgaattttccactgttgattttacttcaagacatagcaagagaaacaaaattttgttttcaagacatttccactgcagtttcaagctgtagtgggcatatgcttcatttacttccaaagaggcaaaagcagctggaattggcttacagcacatgctttgtttcatgttatgggtgaggacctacatacactcttactttagcagtcacttaaccttctccagcaaggcagttgtggggttcactaggatttagtgcctgatcttttttttgggaaggggcgggaatgaatgtgttggggctgggagggaagcagaagaaaatgggagtgtgagtgagtgtgcatgtgtctgaagttcaccattgcccccacctgcacctagcaaggaacaggtgtttgatgtattttgctcatgactgcagtatgcatgtatttttttccttctctgtgttttctaaacttacactaaaggattcatcaaatcatcttgttcagatggctcaggattgtatttattttgcttaccccgtgctcttgggttctatagtatttctataattatgtaacgagaatagtgttgcactgtaatctatcatatagagctatatgtatggaaaattttgatcaattttttaagaaatgtatcctgtttgcaaaggcacagtaaagttgcatcttatagactataggcaataaagctaacaataaaccttatttaacacaaaccacatccatatcctctgttcatttgattttggaaaaagtagcatatccagtagtttcagggaattcattttaactttaagaattctgatatatttaatttataaatttcggactgatataatagagttttggaaaactataagaaatgctttgttaatgtgtgtattcctatgtaaaacacatggcttttcctgtgtatatttttaaaaattaaagaaatgcacatttaaaaagtgaaaaaaaaaaaaaaaaaa
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by @meso_cacase at DBCLS
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