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2019-03-23 03:26:43, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001242768            3174 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+
            dependent) 1-like (MTHFD1L), transcript variant 3, mRNA.
ACCESSION   NM_001242768
VERSION     NM_001242768.1  GI:337756506
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 3174)
  AUTHORS   Calvo,S.E., Compton,A.G., Hershman,S.G., Lim,S.C., Lieber,D.S.,
            Tucker,E.J., Laskowski,A., Garone,C., Liu,S., Jaffe,D.B.,
            Christodoulou,J., Fletcher,J.M., Bruno,D.L., Goldblatt,J.,
            Dimauro,S., Thorburn,D.R. and Mootha,V.K.
  TITLE     Molecular diagnosis of infantile mitochondrial disease with
            targeted next-generation sequencing
  JOURNAL   Sci Transl Med 4 (118), 118RA10 (2012)
   PUBMED   22277967
  REMARK    GeneRIF: Strong candidate gene for mitochondrial disease, based on
            recessive mutations detected in infantile patients
REFERENCE   2  (bases 1 to 3174)
  AUTHORS   Minguzzi,S., Molloy,A.M., Peadar,K., Mills,J., Scott,J.M.,
            Troendle,J., Pangilinan,F., Brody,L. and Parle-McDermott,A.
  TITLE     Genotyping of a tri-allelic polymorphism by a novel melting curve
            assay in MTHFD1L: an association study of nonsyndromic Cleft in
            Ireland
  JOURNAL   BMC Med. Genet. 13, 29 (2012)
   PUBMED   22520921
  REMARK    GeneRIF: The rs3832406 polymorphism was associated with isolated
            cleft lip with or without cleft palate.(MTHFD1L)
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3174)
  AUTHORS   Ma,X.Y., Yu,J.T., Wu,Z.C., Zhang,Q., Liu,Q.Y., Wang,H.F., Wang,W.
            and Tan,L.
  TITLE     Replication of the MTHFD1L gene association with late-onset
            Alzheimer's disease in a Northern Han Chinese population
  JOURNAL   J. Alzheimers Dis. 29 (3), 521-525 (2012)
   PUBMED   22330827
  REMARK    GeneRIF: This study support a role of MTHFD1L gene in late-onset
            Alzheimer's disease in a Northern Han Chinese population.
REFERENCE   4  (bases 1 to 3174)
  AUTHORS   Ren,R.J., Wang,L.L., Fang,R., Liu,L.H., Wang,Y., Tang,H.D.,
            Deng,Y.L., Xu,W., Wang,G. and Chen,S.D.
  TITLE     The MTHFD1L gene rs11754661 marker is associated with
            susceptibility to Alzheimer's disease in the Chinese Han population
  JOURNAL   J. Neurol. Sci. 308 (1-2), 32-34 (2011)
   PUBMED   21741665
  REMARK    GeneRIF: Prevalence of minor allele A (adenosine) in rs11754661
            single nucleotide polymorphism of MTHFD1L contributes to the risk
            of Alzheimer's disease in a Han population of mainland China.
REFERENCE   5  (bases 1 to 3174)
  AUTHORS   Kim,D.H., Lee,S.T., Won,H.H., Kim,S., Kim,M.J., Kim,H.J., Kim,S.H.,
            Kim,J.W., Kim,H.J., Kim,Y.K., Sohn,S.K., Moon,J.H., Jung,C.W. and
            Lipton,J.H.
  TITLE     A genome-wide association study identifies novel loci associated
            with susceptibility to chronic myeloid leukemia
  JOURNAL   Blood 117 (25), 6906-6911 (2011)
   PUBMED   21540461
REFERENCE   6  (bases 1 to 3174)
  AUTHORS   Walkup,A.S. and Appling,D.R.
  TITLE     Enzymatic characterization of human mitochondrial
            C1-tetrahydrofolate synthase
  JOURNAL   Arch. Biochem. Biophys. 442 (2), 196-205 (2005)
   PUBMED   16171773
  REMARK    GeneRIF: Gene encodes the mitochondrial isozyme of
            C1-tetrahydrofolate (THF) synthase, a monofunctional enzyme
            containing formyl-THF synthetase activity.
REFERENCE   7  (bases 1 to 3174)
  AUTHORS   Christensen,K.E., Patel,H., Kuzmanov,U., Mejia,N.R. and
            MacKenzie,R.E.
  TITLE     Disruption of the mthfd1 gene reveals a monofunctional
            10-formyltetrahydrofolate synthetase in mammalian mitochondria
  JOURNAL   J. Biol. Chem. 280 (9), 7597-7602 (2005)
   PUBMED   15611115
REFERENCE   8  (bases 1 to 3174)
  AUTHORS   Sugiura,T., Nagano,Y., Inoue,T. and Hirotani,K.
  TITLE     A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated
            in human colon adenocarcinoma
  JOURNAL   Biochem. Biophys. Res. Commun. 315 (1), 204-211 (2004)
   PUBMED   15013446
REFERENCE   9  (bases 1 to 3174)
  AUTHORS   Prasannan,P., Pike,S., Peng,K., Shane,B. and Appling,D.R.
  TITLE     Human mitochondrial C1-tetrahydrofolate synthase: gene structure,
            tissue distribution of the mRNA, and immunolocalization in Chinese
            hamster ovary calls
  JOURNAL   J. Biol. Chem. 278 (44), 43178-43187 (2003)
   PUBMED   12937168
  REMARK    GeneRIF: mitochondrial C1-tetrahydrofolate synthase gene structure
            and tissue distribution
REFERENCE   10 (bases 1 to 3174)
  AUTHORS   Fountoulakis,M., Gulesserian,T. and Lubec,G.
  TITLE     Overexpression of C1-tetrahydrofolate synthase in fetal Down
            syndrome brain
  JOURNAL   J. Neural Transm. Suppl. 67, 85-93 (2003)
   PUBMED   15068241
  REMARK    GeneRIF: Overexpression of C1-tetrahydrofolate synthase in fetal
            Down syndrome brain at the early second trimester may indicate
            abnormal folate metabolism and may reflect folate deficiency.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA195967.1, AK315378.1 and
            BC110319.1.
            
            Summary: The protein encoded by this gene is involved in the
            synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is
            important in the de novo synthesis of purines and thymidylate and
            in the regeneration of methionine from homocysteine. Several
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (3)
            has a shorter and distinct N-terminus compared to isoform 1.
            
            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##
            RNAseq introns :: mixed/partial sample support ERS025081, ERS025082
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-575               DA195967.1         1-575
            576-2326            AK315378.1         685-2435
            2327-3174           BC110319.1         2262-3109
FEATURES             Location/Qualifiers
     source          1..3174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..3174
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="methylenetetrahydrofolate dehydrogenase (NADP+
                     dependent) 1-like"
                     /db_xref="GeneID:25902"
                     /db_xref="HGNC:21055"
                     /db_xref="MIM:611427"
     exon            1..55
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:111589914"
     CDS             27..2768
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /EC_number="6.3.4.3"
                     /note="isoform 3 is encoded by transcript variant 3;
                     10-formyl-THF synthetase; formyltetrahydrofolate
                     synthetase domain containing 1; monofunctional
                     C1-tetrahydrofolate synthase, mitochondrial"
                     /codon_start=1
                     /product="monofunctional C1-tetrahydrofolate synthase,
                     mitochondrial isoform 3"
                     /protein_id="NP_001229697.1"
                     /db_xref="GI:337756507"
                     /db_xref="GeneID:25902"
                     /db_xref="HGNC:21055"
                     /db_xref="MIM:611427"
                     /translation="
MQSRRARPRREVIQNSKEVLSLLQEKNPAFKPVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEIIDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINLGKLVRGDAHECFVSPVAKAVIELLEKSVGVNLDGKKILVVGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEIPLTWIQPGTTVLNCSHDFLSGKVGCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVPSDIEISRGQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGITPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQGPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARLKKLGINKTDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYRQAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASDKSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALKLVGEEGFVVTEAGFGADIGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGFGNLPICMAKTHLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRPCFYDIDLDTETEQVKGLF
"
     misc_feature    51..>695
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="5,10-methylene-tetrahydrofolate
                     dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase
                     [Coenzyme metabolism]; Region: FolD; COG0190"
                     /db_xref="CDD:30539"
     misc_feature    54..368
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="Tetrahydrofolate dehydrogenase/cyclohydrolase,
                     catalytic domain; Region: THF_DHG_CYH; pfam00763"
                     /db_xref="CDD:201431"
     misc_feature    405..836
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="NAD(P) binding domain of methylene-tetrahydrofolate
                     dehydrogenase and methylene-tetrahydrofolate
                     dehydrogenase/cyclohydrolase; Region:
                     NAD_bind_m-THF_DH_Cyclohyd_like; cd05212"
                     /db_xref="CDD:133451"
     misc_feature    order(513..518,582..587,642..644,702..704)
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="NAD(P) binding site [chemical binding]; other site"
                     /db_xref="CDD:133451"
     misc_feature    885..2765
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="Formate--tetrahydrofolate ligase; Region: PLN02759"
                     /db_xref="CDD:178359"
     misc_feature    960..2714
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="Formyltetrahydrofolate synthetase (FTHFS) catalyzes
                     the ATP-dependent activation of formate ion via its
                     addition to the N10 position of tetrahydrofolate. FTHFS is
                     a highly expressed key enzyme in both the Wood-Ljungdahl
                     pathway of autotrophic CO2...; Region: FTHFS; cd00477"
                     /db_xref="CDD:73210"
     misc_feature    order(1191..1193,1293..1295)
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="Potassium binding sites [ion binding]; other site"
                     /db_xref="CDD:73210"
     misc_feature    order(1191..1196,1272..1280)
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="Cesium cation binding sites [ion binding]; other
                     site"
                     /db_xref="CDD:73210"
     exon            56..140
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       77
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112924195"
     variation       107
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200932801"
     variation       122
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149044401"
     variation       137
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199978377"
     variation       140
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144673274"
     exon            141..191
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       149
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189933545"
     variation       150
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116360932"
     variation       176
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138271579"
     exon            192..245
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       215
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146351770"
     exon            246..370
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       249
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190762212"
     variation       283
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200199559"
     variation       287
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201254747"
     variation       348
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141973185"
     exon            371..471
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       447
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202128387"
     exon            472..611
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       487
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150695212"
     variation       490
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:188595740"
     variation       539
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370852407"
     variation       558
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139687564"
     variation       574
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200812230"
     variation       576
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376881399"
     variation       594
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142599909"
     variation       599
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:144664749"
     exon            612..723
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       647
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:147477487"
     exon            724..815
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       724
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143283631"
     variation       744
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190251947"
     variation       780
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371885160"
     variation       781
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374371626"
     variation       806
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368433166"
     exon            816..913
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       867
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:74451809"
     variation       871
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113242883"
     exon            914..1087
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       938
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:367598413"
     variation       948
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:186968414"
     variation       955
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61754784"
     variation       960
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374456985"
     variation       967
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145541103"
     variation       968
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376629055"
     variation       969
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370374961"
     variation       993
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148879377"
     variation       1000
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142684557"
     variation       1026
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151023222"
     variation       1027
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200840782"
     exon            1088..1224
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1133
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140780101"
     variation       1154
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144622007"
     variation       1157
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200947559"
     variation       1207
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146669423"
     variation       1211
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371570169"
     variation       1216
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376651691"
     exon            1225..1271
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1228
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372597629"
     variation       1268
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200928626"
     exon            1272..1379
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1301
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140272082"
     variation       1309
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373263570"
     variation       1334
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140112064"
     variation       1336
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376972964"
     variation       1367
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186295565"
     exon            1380..1454
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1380
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373281795"
     variation       1387
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138249315"
     variation       1393
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149625114"
     variation       1394
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200434757"
     variation       1400
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:375404857"
     variation       1411
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138991456"
     exon            1455..1557
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1460
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143391077"
     variation       1469
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:148383692"
     variation       1481
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143332247"
     variation       1485
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201027728"
     variation       1496
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200778327"
     variation       1500
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147450268"
     variation       1503
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139875348"
     variation       1507
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143892636"
     variation       1518
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200530931"
     variation       1519
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61748674"
     variation       1524
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367558632"
     variation       1530
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139147258"
     variation       1537
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376707119"
     variation       1546
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149938963"
     exon            1558..1634
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1596
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144324867"
     variation       1598
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113806279"
     variation       1632
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189412854"
     exon            1635..1775
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1636
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139952525"
     variation       1637
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146093887"
     variation       1649
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146649976"
     variation       1650
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115088610"
     variation       1672..1673
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:145254247"
     variation       1672
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202038463"
     variation       1686
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201748605"
     variation       1687
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143492706"
     variation       1710
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150969919"
     variation       1715
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368127056"
     variation       1718
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200017029"
     variation       1768
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370251078"
     exon            1776..1844
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1808..1809
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:35337982"
     variation       1841
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367774759"
     exon            1845..1956
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1859
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141031280"
     variation       1862
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:41289357"
     variation       1867
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201334541"
     variation       1907
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374925853"
     variation       1920
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200743393"
     variation       1935
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150253908"
     exon            1957..2096
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1997
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373294467"
     variation       2038
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202154575"
     variation       2053
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377268290"
     variation       2088
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139267961"
     variation       2090
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182092749"
     exon            2097..2138
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2108
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200904492"
     variation       2125
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113651770"
     variation       2129
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143269665"
     exon            2139..2239
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2213
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370947787"
     variation       2223
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374447294"
     variation       2227
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147116663"
     exon            2240..2417
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2244
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191699496"
     variation       2251
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200271701"
     variation       2282
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368186698"
     variation       2308
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:61753800"
     variation       2311
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138287224"
     variation       2327
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:509474"
     variation       2344
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372067558"
     variation       2345
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373994966"
     variation       2364
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199745523"
     variation       2377
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35829704"
     variation       2409
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144276735"
     exon            2418..2525
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2424
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373771820"
     variation       2428
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377065684"
     variation       2431
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:148480818"
     variation       2438
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148753409"
     variation       2449
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142733823"
     variation       2504
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139919741"
     variation       2511
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377525704"
     exon            2526..2678
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2561
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4929742"
     variation       2570
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:111409265"
     variation       2573
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202243690"
     variation       2609
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143439211"
     variation       2619
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:191040014"
     variation       2621
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:138934712"
     variation       2626
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368758631"
     variation       2635
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139088932"
     variation       2644
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115732448"
     variation       2647
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114123717"
     variation       2648
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138547580"
     variation       2649
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142116222"
     exon            2679..2799
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2723
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375263198"
     variation       2733
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200722924"
     variation       2738
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370642786"
     variation       2762
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138361566"
     variation       2765
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:112855423"
     STS             2792..2959
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /standard_name="RH102196"
                     /db_xref="UniSTS:96530"
     variation       2792
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:55900774"
     variation       2793
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11558820"
     exon            2800..3161
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2838
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2295733"
     variation       2850
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367856083"
     variation       2857
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371697769"
     variation       2882
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:186843447"
     variation       2883
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:191686584"
     variation       2888
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:7646"
     variation       2938
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183358582"
     variation       2973
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1047662"
     variation       2991..2994
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="aatt"
                     /db_xref="dbSNP:369177303"
     variation       2992
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:189163715"
     STS             3010..3150
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /standard_name="STS-N30148"
                     /db_xref="UniSTS:45583"
     variation       3011
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146194360"
     variation       3074
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7543"
     variation       3093
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1047665"
     polyA_signal    3137..3142
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
     polyA_site      3161
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
ORIGIN      
acgtgcgcagccggccgccggctctgatgcaatcgcgccgggcgcgacccagacgagaagtcattcagaattcaaaagaagttctaagtttattgcaagaaaaaaaccctgccttcaagccggttcttgcaattatccaggcaggtgacgacaacttgatgcaggaaatcaaccagaatttggctgaggaggctggtctgaacatcactcacatttgcctccctccagatagcagtgaagccgagattatagatgaaatcttaaagatcaatgaagataccagagtacatggccttgcccttcagatctctgagaacttgtttagcaacaaagtcctcaatgccttgaaaccagaaaaagatgtggatggagtaacagacataaacctggggaagctggtgcgaggggatgcccatgaatgttttgtttcacctgttgccaaagctgtaattgaacttcttgaaaaatcagtaggtgtcaacctagatggaaagaagattttggtagtgggggcccatgggtctttggaagctgctctacaatgcctgttccagagaaaagggtccatgacaatgagcatccagtggaaaacacgccagcttcaaagcaagcttcacgaggctgacattgtggtcctaggctcacctaagccagaagagattccccttacttggatacaaccaggaactactgttctcaactgctcccatgacttcctgtcagggaaggttgggtgtggctctccaagaatacattttggtggactcattgaggaagatgatgtgattctccttgctgcagctctgcgaattcagaacatggtcagtagtggaaggagatggcttcgtgaacagcagcacaggcggtggagacttcactgcttgaaacttcagcctctctcccctgtgccaagtgacattgagatttcaagaggacaaactccaaaagctgtggatgtccttgccaaggagattggattgcttgcagatgaaattgaaatctatggcaaaagcaaagccaaagtacgtttgtccgtgctagaaaggttaaaggatcaagcagatggaaaatacgtcttagttgctgggatcacacccacccctcttggagaagggaagagcacagtcaccatcgggcttgtgcaggctctgaccgcacacctgaatgtcaactcctttgcctgcttgaggcagccttcccaaggaccgacgtttggagtgaaaggaggagccgcgggtggtggatatgcccaggtcatccccatggaggagttcaaccttcacttgactggagacatccacgccatcaccgctgccaataacttgctggctgccgccatcgacacgaggattcttcatgaaaacacgcaaacagataaggctctgtataatcggctggttcctttagtgaatggtgtcagagaattttcagaaattcagcttgctcggctaaaaaaactgggaataaataagactgatccgagcacactgacagaagaggaagtgagtaaatttgcccgtctcgacatcgacccatctaccatcacgtggcagagagtattggatacaaatgaccgatttctacgaaaaataaccatcgggcagggaaacacagagaagggccattaccggcaggcgcagtttgacatcgcagtggccagcgagatcatggcggtgctggccctgacggacagcctcgcagacatgaaggcacggctgggaaggatggtggtggccagtgacaaaagcgggcagcctgtgacagcagatgatttgggggtgacaggtgctttgacagttttgatgaaagatgcaataaaaccaaacctgatgcagaccctggaagggacacctgtgttcgtgcatgcgggcccttttgctaacattgctcacggcaactcttcagtgttggctgataaaattgccctgaaactggttggtgaagaaggatttgtagtgaccgaagctggctttggtgctgacatcggaatggagaaattcttcaacatcaagtgccgagcttccggcttggtgcccaacgtggttgtgttagtggcaacggtgcgagctctgaagatgcatggaggcgggccaagtgtaacggctggtgttcctcttaagaaagaatatacagaggagaacatccagctggtggcagacggctgctgtaacctccagaagcaaattcagatcactcagctctttggggttcccgttgtggtggctctgaatgtcttcaagaccgacacccgcgctgagattgacttggtgtgtgagcttgcaaagcgggctggtgcctttgatgcagtcccctgctatcactggtccgttggtggaaaaggatcggtggacttggctcgggctgtgagagaggctgcgagtaaaagaagccgattccagttcctgtatgatgttcaggttccaattgtggacaagataaggaccattgctcaggctgtctatggagccaaagatattgaactctctcctgaggcacaagccaaaatagatcgttacactcaacagggttttggaaatttgcccatctgcatggcaaagacccacctttctctatctcaccaacctgacaaaaaaggtgtgccaagggacttcatcttacctatcagtgacgtccgggccagcataggcgctgggttcatttaccctttggtcggaacgatgagcaccatgccaggactgcccacccggccctgcttttatgacatagatcttgataccgaaacagaacaagttaaaggcttgttctaagtggacaaggctctcacaggacccgatgcagactcctgaaacagactactctttgcctttttgctgcagttggagaagaaactgaatttgaaaaatgtctgttatgcaatgctggagacatggtgaaataggccaaagatttcttcttcgttcaagatgaattctgttcacagtggagtatggtgttcggcaaaaggacctccaccaagactgaaagaaactaatttatttctgtttctgtggagtttccattatttctactgcttacactttagaatgtttattttatggggactaagggattaggagtgtgaactaaaaggtaacattttccactctcaagttttctactttgtctttgaactgaaaataaacatggatctagaaaaccaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:25902 -> Molecular function: GO:0004329 [formate-tetrahydrofolate ligase activity] evidence: IDA
            GeneID:25902 -> Molecular function: GO:0004477 [methenyltetrahydrofolate cyclohydrolase activity] evidence: IBA
            GeneID:25902 -> Molecular function: GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity] evidence: IBA
            GeneID:25902 -> Molecular function: GO:0005524 [ATP binding] evidence: IDA
            GeneID:25902 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IDA
            GeneID:25902 -> Biological process: GO:0006730 [one-carbon metabolic process] evidence: IBA
            GeneID:25902 -> Biological process: GO:0006760 [folic acid-containing compound metabolic process] evidence: IDA
            GeneID:25902 -> Biological process: GO:0009396 [folic acid-containing compound biosynthetic process] evidence: IEA
            GeneID:25902 -> Biological process: GO:0015942 [formate metabolic process] evidence: IDA
            GeneID:25902 -> Biological process: GO:0035999 [tetrahydrofolate interconversion] evidence: IEA
            GeneID:25902 -> Biological process: GO:0046653 [tetrahydrofolate metabolic process] evidence: IDA
            GeneID:25902 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
            GeneID:25902 -> Cellular component: GO:0005829 [cytosol] evidence: IBA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001229697 -> EC 6.3.4.3

by @meso_cacase at DBCLS
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