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2024-04-20 02:36:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001170628 12280 bp mRNA linear PRI 14-APR-2013
DEFINITION Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant
6, mRNA.
ACCESSION NM_001170628
VERSION NM_001170628.1 GI:282165700
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 12280)
AUTHORS Mondal,K., Ramachandran,D., Patel,V.C., Hagen,K.R., Bose,P.,
Cutler,D.J. and Zwick,M.E.
TITLE Excess variants in AFF2 detected by massively parallel sequencing
of males with autism spectrum disorder
JOURNAL Hum. Mol. Genet. 21 (19), 4356-4364 (2012)
PUBMED 22773736
REMARK GeneRIF: 2.5% of males Autism spectrum disorder patients had
missense mutations in AFF2 at highly conserved evolutionary sites.
REFERENCE 2 (bases 1 to 12280)
AUTHORS Sahoo,T., Theisen,A., Marble,M., Tervo,R., Rosenfeld,J.A.,
Torchia,B.S. and Shaffer,L.G.
TITLE Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two
unrelated males with developmental delay
JOURNAL Am. J. Med. Genet. A 155A (12), 3110-3115 (2011)
PUBMED 22065534
REMARK GeneRIF: A report of novel deletions involving AFF2 provide
evidence for a new mutational spectrum, microdeletions, that are
responsible for Fragile X E in a small subset of patients.
REFERENCE 3 (bases 1 to 12280)
AUTHORS Melko,M., Douguet,D., Bensaid,M., Zongaro,S., Verheggen,C., Gecz,J.
and Bardoni,B.
TITLE Functional characterization of the AFF (AF4/FMR2) family of
RNA-binding proteins: insights into the molecular pathology of
FRAXE intellectual disability
JOURNAL Hum. Mol. Genet. 20 (10), 1873-1885 (2011)
PUBMED 21330300
REMARK GeneRIF: overexpression of AFF2/3/4 interferes with the
organization and/or biogenesis of nuclear speckles.
REFERENCE 4 (bases 1 to 12280)
AUTHORS Katikala,L., Guruju,M.R., Madireddi,S., Vallamkonda,O.,
Vallamkonda,N., Persha,A. and Spurgeon,A.M.
TITLE Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an
Indian population with mental retardation of unknown etiology
JOURNAL Genet Test Mol Biomarkers 15 (4), 281-284 (2011)
PUBMED 21254876
REMARK GeneRIF: CGG/GCC repeat polymorphism at the FMR1 and FMR2 loci
observed in this study demonstrated a racial and ethnic variation
among the populations in India.
REFERENCE 5 (bases 1 to 12280)
AUTHORS Bensaid,M., Melko,M., Bechara,E.G., Davidovic,L., Berretta,A.,
Catania,M.V., Gecz,J., Lalli,E. and Bardoni,B.
TITLE FRAXE-associated mental retardation protein (FMR2) is an
RNA-binding protein with high affinity for G-quartet RNA forming
structure
JOURNAL Nucleic Acids Res. 37 (4), 1269-1279 (2009)
PUBMED 19136466
REFERENCE 6 (bases 1 to 12280)
AUTHORS Allingham-Hawkins,D.J. and Ray,P.N.
TITLE FRAXE expansion is not a common etiological factor among
developmentally delayed males
JOURNAL Am. J. Hum. Genet. 57 (1), 72-76 (1995)
PUBMED 7541938
REFERENCE 7 (bases 1 to 12280)
AUTHORS Mulley,J.C., Yu,S., Loesch,D.Z., Hay,D.A., Donnelly,A.,
Gedeon,A.K., Carbonell,P., Lopez,I., Glover,G., Gabarron,I. et al.
TITLE FRAXE and mental retardation
JOURNAL J. Med. Genet. 32 (3), 162-169 (1995)
PUBMED 7783162
REFERENCE 8 (bases 1 to 12280)
AUTHORS Knight,S.J., Voelckel,M.A., Hirst,M.C., Flannery,A.V., Moncla,A.
and Davies,K.E.
TITLE Triplet repeat expansion at the FRAXE locus and X-linked mild
mental handicap
JOURNAL Am. J. Hum. Genet. 55 (1), 81-86 (1994)
PUBMED 8023854
REFERENCE 9 (bases 1 to 12280)
AUTHORS Knight,S.J., Flannery,A.V., Hirst,M.C., Campbell,L.,
Christodoulou,Z., Phelps,S.R., Pointon,J., Middleton-Price,H.R.,
Barnicoat,A., Pembrey,M.E. et al.
TITLE Trinucleotide repeat amplification and hypermethylation of a CpG
island in FRAXE mental retardation
JOURNAL Cell 74 (1), 127-134 (1993)
PUBMED 8334699
REFERENCE 10 (bases 1 to 12280)
AUTHORS Sutherland,G.R. and Baker,E.
TITLE Characterisation of a new rare fragile site easily confused with
the fragile X
JOURNAL Hum. Mol. Genet. 1 (2), 111-113 (1992)
PUBMED 1301146
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK301927.1, AC002368.1 and
AC231841.2.
Summary: This gene encodes a putative transcriptional activator
that is a member of the AF4\FMR2 gene family. This gene is
associated with the folate-sensitive fragile X E locus on
chromosome X. A repeat polymorphism in the fragile X E locus
results in silencing of this gene causing Fragile X E syndrome.
Fragile X E syndrome is a form of nonsyndromic X-linked mental
retardation. Alternate splicing results in multiple transcript
variants.[provided by RefSeq, Dec 2009].
Transcript Variant: This variant (6) has multiple differences, and
initiates translation at an alternate start codon, compared to
variant 1. The encoded isoform (6) has a distinct N-terminus and is
shorter than isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK301927.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-19 AK301927.1 1-19
20-20 AC002368.1 289422-289422
21-3019 AK301927.1 21-3019
3020-12280 AC231841.2 2353-11613 c
FEATURES Location/Qualifiers
source 1..12280
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq28"
gene 1..12280
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/note="AF4/FMR2 family, member 2"
/db_xref="GeneID:2334"
/db_xref="HGNC:3776"
/db_xref="MIM:300806"
exon 1..141
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 15
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:189238334"
variation 64
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:147596059"
variation 65
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:193231108"
misc_feature 85..87
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/note="upstream in-frame stop codon"
CDS 91..2949
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/note="isoform 6 is encoded by transcript variant 6;
fragile X E mental retardation syndrome protein; protein
FMR-2; fragile X mental retardation 2 protein"
/codon_start=1
/product="AF4/FMR2 family member 2 isoform 6"
/protein_id="NP_001164099.1"
/db_xref="GI:282165701"
/db_xref="CCDS:CCDS55521.1"
/db_xref="GeneID:2334"
/db_xref="HGNC:3776"
/db_xref="MIM:300806"
/translation="
MKFKRRHQAFPSFFKMKVSLPSDPSCVEEILRESQHLTPGFTLQKWNDPTTRASTKSVSFKSMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQASGGSGSSSESESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQNKSFICGQNETPMETISLPPPIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRPTQKIPETKALKHKLSTTSETVSQRTIGKKQPKKVEKNTSTDEFTWPKPNITSSTPKEKESVELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGPGKIVPKSREFIETDSSTSDSNTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLSISNEEPTFSPIPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTAVTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNSSRRANRRKEEKLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGKFCATFKGISVNEGDTPKKASSATITVTNTAIATATVTATAIVTTTVTATATATATTTTTTTTISTITSTITTGLMDSSHLEMTSWAALPLLSSSSTNVRRPKLTFDDSVHNADYYMQEAKKLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEAKSPYTMYSETVELLRYAMRLKNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFKQNASKVAQIPSPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHWDMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL
"
misc_feature <142..>1947
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/note="AF-4 proto-oncoprotein; Region: AF-4; pfam05110"
/db_xref="CDD:147338"
misc_feature <2179..2940
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/note="AF-4 proto-oncoprotein; Region: AF-4; pfam05110"
/db_xref="CDD:147338"
variation 123
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:140788054"
variation 134
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:241084"
variation 138
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:184816699"
exon 142..186
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 161
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:376054184"
variation 162
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:145185488"
variation 185
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:368578550"
exon 187..223
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 192
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:149177157"
exon 224..275
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 246
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:370129290"
variation 275
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:201881045"
exon 276..372
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 300
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:370821602"
variation 343
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:143278161"
variation 366
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:138980868"
exon 373..410
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 406
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:375518863"
exon 411..570
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 436
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:199667824"
variation 455
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:142107931"
variation 458
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:145907183"
variation 483
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:202072020"
variation 498
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:138454102"
variation 501
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:12011040"
variation 554
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:369100046"
exon 571..1581
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 621
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:200788138"
variation 653
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:147098255"
variation 666
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:16994869"
variation 690
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:368960902"
variation 695
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:201731285"
variation 710
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:183626057"
variation 734
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:200099351"
variation 735
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:201846826"
variation 738
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:370610365"
variation 746
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:139036592"
variation 801
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:149492076"
variation 808
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:373295539"
variation 843
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:200450195"
variation 847
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:376847375"
variation 855
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:371160275"
variation 871
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:143923852"
variation 879
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:201939574"
variation 903
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:35481955"
variation 937
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:374626798"
variation 953
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:368412621"
variation 955
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:370373395"
variation 1005
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:201552726"
variation 1054
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:188332287"
variation 1078
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:140525796"
variation 1109
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:374716787"
variation 1180
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:367644155"
variation 1194
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:143927826"
variation 1195
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:199773486"
variation 1209
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:202015083"
variation 1217
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:371781393"
variation 1350
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:201075062"
variation 1364
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:147852345"
variation 1370
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:376114319"
variation 1391
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:200490489"
variation 1437
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:139807832"
variation 1475
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:368480543"
variation 1548
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:142686839"
variation 1558
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:372296594"
exon 1582..1703
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 1593
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="t"
/db_xref="dbSNP:56269792"
variation 1614
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:185675988"
variation 1669
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:151043891"
variation 1688
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:189994494"
exon 1704..1926
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 1725
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:373395605"
variation 1793
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:140927355"
variation 1801
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:150223404"
variation 1840
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:374800841"
exon 1927..2216
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 1949
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:146808155"
variation 1957
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:140666372"
variation 1988
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:145756055"
variation 2028
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:138406514"
variation 2046
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:201632076"
variation 2101
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:149653283"
variation 2142
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:200301935"
variation 2166
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:143384205"
variation 2216
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:188208167"
exon 2217..2280
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
exon 2281..2417
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 2281
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:147991137"
variation 2283
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:371376716"
variation 2358
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:200225379"
exon 2418..2489
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 2469
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:187306270"
variation 2484
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:372052962"
exon 2490..2583
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 2556
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:141612728"
variation 2566
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:12858959"
exon 2584..2636
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 2602
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:373659849"
variation 2612
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:200360366"
exon 2637..2827
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 2645..2646
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="c"
/db_xref="dbSNP:34986113"
STS 2648..2780
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/standard_name="AFF2"
/db_xref="UniSTS:506659"
variation 2667
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:370206293"
variation 2668
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:147166674"
variation 2683
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:374197610"
variation 2706
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:140356860"
variation 2709
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:35967616"
variation 2805
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:181570030"
exon 2828..12280
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/inference="alignment:Splign:1.39.8"
variation 2850
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:61743576"
variation 2916
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:139135283"
variation 2932
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:149966195"
variation 2995
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:4636363"
variation 3002
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:370349898"
variation 3181
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:151228485"
variation 3386
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:376700540"
STS 3556..3788
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/standard_name="RH70649"
/db_xref="UniSTS:23918"
variation 3584
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:182335257"
variation 3590
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:186614933"
variation 3703
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:139176217"
variation 3769
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:189836593"
variation 4001
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:149934062"
variation 4049
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:146483810"
variation 4174
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:183519969"
variation 4210
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:73614092"
variation 4429
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:370253663"
variation 4566
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:193174908"
variation 4570
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:7887569"
STS 4595..4716
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/standard_name="RH66769"
/db_xref="UniSTS:63444"
variation 4668
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:144651539"
variation 4826
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:146685166"
variation 4903
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:185031722"
variation 5021
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:74842027"
variation 5287
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:148829584"
variation 5302
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:188291029"
variation 5485
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:57460991"
variation 5736
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:191480494"
variation 5811
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:183971008"
variation 5984
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:188324044"
variation 6209
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:6540412"
variation 6335
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:146861668"
variation 6399
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:6540413"
variation 6595
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:374709006"
variation 6663
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:73614095"
variation 6707
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:191231389"
variation 6799
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:41304960"
variation 6921
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:73614097"
variation 7107
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:77735141"
variation 7219
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:185805080"
variation 7228..7229
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="a"
/db_xref="dbSNP:35032574"
variation 7269
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:190283117"
polyA_signal 7320..7325
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
polyA_site 7344
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
variation 7443
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:368052114"
variation 7694
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:182046461"
variation 7864
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:186583805"
variation 7948
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:12014237"
variation 8053
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:189857586"
variation 8073
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:369931707"
variation 8315
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:375981595"
variation 8372
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:149563971"
variation 8660
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:200859798"
variation 8690
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:181428846"
variation 8744
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:367789536"
variation 8826
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:185640541"
variation 8830
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:189959029"
variation 8902..8903
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="acacacac"
/db_xref="dbSNP:372046631"
variation 8911..8912
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="cacaca"
/db_xref="dbSNP:72232616"
variation 8917..8918
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="ct"
/db_xref="dbSNP:201960244"
variation 8918
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:58381608"
variation 8992..8993
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="a"
/db_xref="dbSNP:200419224"
variation 8993..8994
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="a"
/db_xref="dbSNP:376910951"
variation 8996..8997
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="a"
/db_xref="dbSNP:372432066"
STS 9111..9443
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/standard_name="RH119837"
/db_xref="UniSTS:133582"
STS 9111..9382
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/standard_name="RH120439"
/db_xref="UniSTS:133434"
variation 9116
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:72611275"
variation 9124
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:59400074"
variation 9252
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:375161046"
variation 9323..9328
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="ttacac"
/db_xref="dbSNP:201762227"
variation 9328
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="ttacac"
/db_xref="dbSNP:146492736"
variation 9349
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:187462374"
variation 9354
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:191815457"
variation 9444
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:148492729"
variation 9499
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:17318323"
variation 9611
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:183687258"
STS 9639..9735
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/standard_name="SHGC-7435"
/db_xref="UniSTS:1300"
variation 9709..9710
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="a"
/db_xref="dbSNP:199721412"
variation 9726
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:16994920"
variation 9802
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:139910801"
variation 9827
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:58901446"
variation 9856
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:188550543"
variation 9887..9888
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="tc"
/db_xref="dbSNP:201953511"
variation 9903
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="g"
/db_xref="dbSNP:34561342"
variation 9964
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:16994922"
variation 10035
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:192044449"
variation 10078
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:140152199"
variation 10082
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:372650180"
variation 10084
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:182660223"
variation 10142
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:186936515"
variation 10170
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:191374718"
variation 10182
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:6641482"
variation 10372
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="t"
/db_xref="dbSNP:200791203"
variation 10391
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:184174133"
variation 10418
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:190676602"
variation 10422
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:193010493"
variation 10462..10463
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="ga"
/db_xref="dbSNP:3831669"
variation 10472..10475
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="tctc"
/db_xref="dbSNP:374459444"
variation 10702
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:185676537"
variation 10785
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:57522049"
variation 10811
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:189235006"
variation 10819
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:144890448"
variation 10822
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:181528352"
variation 10840
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:149225473"
variation 10881
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:146899103"
variation 10892
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:41304958"
variation 10954
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:188535773"
variation 10966
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:371099570"
variation 11143
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:180936669"
variation 11147
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:185757853"
variation 11197..11198
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="gt"
/db_xref="dbSNP:374190214"
variation 11205..11234
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="gtgtgtgtgtgtgtgcgcgcacgcacgtgc"
/db_xref="dbSNP:66940095"
variation 11215..11244
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace=""
/replace="gtgtgcgcgcacacacgtgcgtgtgtgtgt"
/db_xref="dbSNP:371166069"
variation 11221
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:372884334"
variation 11223
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:191010209"
variation 11227
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:184050542"
variation 11237
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:75188108"
variation 11312
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="t"
/db_xref="dbSNP:187336298"
variation 11436
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:139310302"
variation 11437
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:190620184"
variation 11538
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:141776682"
variation 11578
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="g"
/replace="t"
/db_xref="dbSNP:73640620"
variation 11688
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:4844081"
variation 11696
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="c"
/db_xref="dbSNP:182791112"
variation 11749
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:5980619"
variation 11781
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:6641483"
variation 11805
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:41301301"
variation 11812
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:41312787"
variation 11864
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:191519536"
variation 11948
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:142697456"
STS 11985..12111
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/standard_name="RH18451"
/db_xref="UniSTS:76815"
variation 12031
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="a"
/replace="g"
/db_xref="dbSNP:182871110"
variation 12087
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="t"
/db_xref="dbSNP:41304956"
variation 12204
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
/replace="c"
/replace="g"
/db_xref="dbSNP:192692172"
polyA_signal 12257..12262
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
polyA_site 12280
/gene="AFF2"
/gene_synonym="FMR2; FMR2P; FRAXE; MRX2; OX19"
ORIGIN
agttttggttgtggcaacccagaggaaggttgcagtggcccatctatctatcccagatgtaagatatgcttcacccctctttcttgatccatgaagttcaaaaggaggcaccaagcatttccgtccttcttcaagatgaaggtaagccttcccagtgatccaagctgtgttgaagaaatcttgcgggaatcgcagcatctgaccccaggattcaccttacaaaagtggaatgacccaaccaccagagcttctacaaagtcagtgtctttcaaatcgatgcttgaggatgacctgaagctgagcagtgatgaagatgaccttgagcctgtgaagaccttgaccactcagtgcactgccactgagctctaccaggctgttgaaaaggcaaaacctaggaataatcctgtgaacccacccttggccactccccagcccccacctgcagtgcaagccagcgggggttctggcagctccagcgaatcggagagcagctctgagtcggattcagacactgaaagtagcaccactgacagcgaatctaatgaggcacctcgtgtggcaactccagagcctgagccaccctcaaccaacaagtggcaactggataaatggcttaacaaagtgacatcccagaacaagtcttttatttgtggccaaaatgaaacacccatggagactatttctctgcctcctccaatcatccaaccaatggaagtccagatgaaagtgaagacgaatgccagtcaggtcccagctgaacccaaagaaaggcctctcctcagtctcattagggagaaagcccgtccacggcccactcagaaaattccagaaacaaaggctttgaagcataagttgtcaacaactagtgagacagtgtctcaaaggacaattgggaaaaaacagcccaaaaaagttgagaagaacaccagcactgacgagtttacctggcccaaaccaaatattaccagcagcactcccaaagaaaaagaaagtgtggagcttcatgacccaccaagaggccgcaacaaagccactgcccacaaaccagcccctaggaaagaaccaagacctaacatccctttggctcccgagaagaagaagtacagagggcctggcaagattgtgccaaagtctcgggaattcattgaaacagattcatctacatctgactccaacacagatcaggaagagaccctgcaaatcaaagtcctgcctccgtgcattatttctggaggtaatactgccaaatccaaggaaatctgtggtgccagcctgaccctcagcaccttaatgagtagcagtggcagcaacaacaacttatccatcagtaatgaagagccaacattttcacctattcctgtcatgcaaactgaaatcctgtcccctctgcgagatcatgagaacctgaaaaacctctgggtgaagattgaccttgacttactctctagagtacctggccacagctcactccatgcagcacctgccaagccagaccacaaggagactgccacaaaacccaagcgtcagacagctgtcacagctgtggagaaaccagcccctaagggcaaacgtaagcacaagccaatagaagttgcagagaagatccctgagaagaagcagcgcctggaggaggccacaactatctgcttgctccctccttgcatctcaccagccccaccccacaagcctcccaacactagagaaaataattcatccaggagagcaaatagaagaaaggaagaaaaactatttcctcctccactttccccactgccagaggaccctccacgccgcagaaatgtcagtggcaataatggtccctttggtcaagacaaaaacatcgccatgactggacaaatcacatctaccaaacctaagagaactgaaggcaaattctgtgctactttcaaagggatatcggtaaatgagggagacactccaaaaaaggcatcctctgccaccatcactgtcaccaatactgctattgccactgctactgtcactgctactgccattgtcaccaccactgtcacagctactgccaccgccacggccaccaccacaactactaccactaccatttccaccatcacctctaccatcactactggcctcatggatagcagtcacctggagatgacgtcctgggcggctctgccccttctatccagcagcagcactaatgtccggagacccaagctcacttttgatgactcggttcacaatgctgattattacatgcaagaagctaagaagctgaagcacaaagctgatgcactgttcgagaaatttggcaaagctgtgaattatgctgatgccgccctctccttcactgaatgtggcaatgccatggaacgcgaccctctggaagcaaagtccccatacaccatgtactctgagactgtggagctcctcaggtatgcaatgaggctgaagaactttgcaagtcccttggcttcggatggggacaaaaagctagcagtactatgctaccgatgtttatcactcctctatttgagaatgtttaagctgaagaaggaccatgctatgaagtactccagatcactgatggaatattttaagcaaaatgcttcaaaagtcgcacagataccctctccatgggtaagcaatggaaagaacactccatccccagtgtctctcaacaacgtctcccccatcaacgcaatggggaactgtaacaatggcccagtcaccattccccagcgcattcaccacatggctgccagccacgtcaacatcactagcaatgtgttacggggctatgaacactgggatatggccgacaaactgacaagagaaaacaaagaattctttggtgatctggacacgctgatggggcctctgacccagcacagcagcatgaccaatcttgtccgctacgttcgccaaggactgtgttggctgcgcatcgatgcccacttgttgtagtgggtgttctcagatctctagcatcacgacccatcactctacctctaccagcgcactgatggtcactggtggaactccactcactggggaacgttctctttggttatgtttgtttttatgcttcttttgttatctgtaaaaaacagaagtcattgtaagttgacactacaacttaagggcagtgtacgttttattacttagtcattttttttcttttagcatttgatatgcatttctcagattccaccatctttttgtgctttatggaatgacagtccctacaatattgttttaagcccacactacccaaaacaaagaatgggaagcacttgtgataaagacaggctcctgagaaatgcaacaagtggtcttacatatacatgagaacttagacacaagggaccatcccccaaactctactcttatacccagaaaagaacatatttcagaatctgtcaaacttttgtgtatcccacagattcaatcttcaggtgagaattttcattgtcaaaacccactggttagatgttgtagcaacatcataaaatcaagagtatcaagaaaataaatgagcatagcaatgctactcttaaaaagatgctatgccacacaaccagaggactttcttgttagcatccctttcctgattccctattttgttaattttaatgataagaagaaagggtgacatttattttgacaagttttaggcatcagctggcatcagtgtttttcaactccattatttgaagtgtaaatcctcacctggggttctctgtgtgcaaagctgtccttttgaagaacagtttggttgatgcatgccttagtagccaaaatgctacactctagacttacaagtgggagttaagagaggtctggaaagtgtccaacaaggaattcacacctctgcctcctttgcaacaacaacatttacacagttggtaagtgggtccataactggcaggatttttaaattgtattttgctcaaatctatgggaacaaaagtcaaggtatcactacctagaagtaatgatatacagttttcttcctagtggcttgaaaatctggacttcctcaattattattcacattttctctcttataggttttctgttttctactttcttttttctcttatctgtgtttccctttcctttgtttggctcattaacttttgactgaattacaattactccttttattaaagtccatattattgtgaatcatttccatgaaaatttctaagaaaactccaaactctctaaatagtagctaacttttatttttttaaaatgagtcgtggggtagtgcttcaccttgagatgctttgaaagagccctaaacattgggaaccattcacctaatttggagacatttctcactggttgtgactacccccttatgatccttcacattcattttatgtccctaaacatcacaatgtaaatatcatttttgatgttccagctcaccagaagattcttacacttggggtaaacactatccatgcattacttactggtaattacctgctggtatataattccatgtagcctttaatatgctgggttatcaaattctgttcactgagttatgaccagataaataatagatatgcacatgaaagatgcaaacttgtgtgattattaaagccagccatgcaggtccatgatagaaacagcaggtgatgactctgcactctcattgtcaaggttagatatatccccagttgcaaaacagccagacttgagctgtgctctggtcatctttgagtttaaggccttttgttgtataaggctgtggaagttgtactccaatggctgaagccatgttgttaatatggctgatgggagcatccctgcagctgaacccagcactttttatgctcccactgtggttgagctttatgtttacagtctcagcaacaacacttatgcatccaaacactcacaaatgaaacctgaaagaatcttttctgagcctcttaaaagaggaaaatgatgataacattaaagactctgaacacccaaggttggtgtcacatataaaa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//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2334 -> Molecular function: GO:0002151 [G-quadruplex RNA binding] evidence: ISS
GeneID:2334 -> Biological process: GO:0006397 [mRNA processing] evidence: IEA
GeneID:2334 -> Biological process: GO:0007420 [brain development] evidence: TAS
GeneID:2334 -> Biological process: GO:0007611 [learning or memory] evidence: IEA
GeneID:2334 -> Biological process: GO:0008380 [RNA splicing] evidence: IEA
GeneID:2334 -> Biological process: GO:0043484 [regulation of RNA splicing] evidence: IMP
GeneID:2334 -> Cellular component: GO:0016607 [nuclear speck] evidence: IDA
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