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2019-03-25 14:32:03, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001242767            3490 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+
            dependent) 1-like (MTHFD1L), transcript variant 1, mRNA.
ACCESSION   NM_001242767
VERSION     NM_001242767.1  GI:337756500
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 3490)
  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 3490)
  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 3490)
  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 3490)
  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 3490)
  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 3490)
  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 3490)
  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 3490)
  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 3490)
  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 3490)
  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 DB727926.1, BC144368.1 and
            BC110319.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            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 (1) represents the longest
            transcript and encodes the longest 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##
            Transcript exon combination :: BC136685.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025086, ERS025093 [ECO:0000348]
            ##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
            1-110               DB727926.1         6-115
            111-3123            BC144368.1         1-3013
            3124-3490           BC110319.1         2743-3109
FEATURES             Location/Qualifiers
     source          1..3490
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..3490
                     /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..371
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       44..45
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="ccg"
                     /db_xref="dbSNP:71818809"
     variation       52
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:191863790"
     variation       54..55
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="cgc"
                     /db_xref="dbSNP:71832259"
     variation       69..70
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="ggcggc"
                     /db_xref="dbSNP:71014527"
     CDS             145..3084
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /EC_number="6.3.4.3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 10-formyl-THF synthetase;
                     formyltetrahydrofolate synthetase domain containing 1;
                     monofunctional C1-tetrahydrofolate synthase,
                     mitochondrial"
                     /codon_start=1
                     /product="monofunctional C1-tetrahydrofolate synthase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_001229696.1"
                     /db_xref="GI:337756501"
                     /db_xref="GeneID:25902"
                     /db_xref="HGNC:21055"
                     /db_xref="MIM:611427"
                     /translation="
MGTRLPLVLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSSCSPGGRTPAARDSIVREVIQNSKEVLSLLQEKNPAFKPVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEIIDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINLGKLVRGDAHECFVSPVAKAVIELLEKSVGVNLDGKKILVVGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEIPLTWIQPGTTVLNCSHDFLSGKVGCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVPSDIEISRGQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGITPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQGPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARLKKLGINKTDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYRQAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASDKSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALKLVGEEGFVVTEAGFGADIGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGFGNLPICMAKTHLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRPCFYDIDLDTETEQVKGLF
"
     transit_peptide 145..237
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
     mat_peptide     238..3081
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /product="monofunctional C1-tetrahydrofolate synthase,
                     mitochondrial isoform 1"
     misc_feature    358..>1011
                     /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    364..684
                     /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    721..1152
                     /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(829..834,898..903,958..960,1018..1020)
                     /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    1201..3081
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /note="Formate--tetrahydrofolate ligase; Region: PLN02759"
                     /db_xref="CDD:178359"
     misc_feature    1276..3030
                     /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(1507..1509,1609..1611)
                     /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(1507..1512,1588..1596)
                     /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            372..456
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       393
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112924195"
     variation       423
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200932801"
     variation       438
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149044401"
     variation       453
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199978377"
     variation       456
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144673274"
     exon            457..507
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       465
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189933545"
     variation       466
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116360932"
     variation       492
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138271579"
     exon            508..561
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       531
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146351770"
     exon            562..686
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       565
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190762212"
     variation       599
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200199559"
     variation       603
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201254747"
     variation       664
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141973185"
     exon            687..787
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       763
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202128387"
     exon            788..927
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       803
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150695212"
     variation       806
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:188595740"
     variation       855
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370852407"
     variation       874
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139687564"
     variation       890
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200812230"
     variation       892
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376881399"
     variation       910
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142599909"
     variation       915
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:144664749"
     exon            928..1039
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       963
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:147477487"
     exon            1040..1131
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1040
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143283631"
     variation       1060
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190251947"
     variation       1096
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371885160"
     variation       1097
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374371626"
     variation       1122
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368433166"
     exon            1132..1229
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1183
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:74451809"
     variation       1187
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113242883"
     exon            1230..1403
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1254
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:367598413"
     variation       1264
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:186968414"
     variation       1271
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61754784"
     variation       1276
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374456985"
     variation       1283
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145541103"
     variation       1284
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376629055"
     variation       1285
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370374961"
     variation       1309
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148879377"
     variation       1316
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142684557"
     variation       1342
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151023222"
     variation       1343
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200840782"
     exon            1404..1540
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1449
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140780101"
     variation       1470
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144622007"
     variation       1473
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200947559"
     variation       1523
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146669423"
     variation       1527
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371570169"
     variation       1532
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376651691"
     exon            1541..1587
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1544
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372597629"
     variation       1584
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200928626"
     exon            1588..1695
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1617
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140272082"
     variation       1625
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373263570"
     variation       1650
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140112064"
     variation       1652
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376972964"
     variation       1683
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186295565"
     exon            1696..1770
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1696
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373281795"
     variation       1703
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138249315"
     variation       1709
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149625114"
     variation       1710
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200434757"
     variation       1716
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:375404857"
     variation       1727
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138991456"
     exon            1771..1873
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1776
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143391077"
     variation       1785
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:148383692"
     variation       1797
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143332247"
     variation       1801
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201027728"
     variation       1812
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200778327"
     variation       1816
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147450268"
     variation       1819
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139875348"
     variation       1823
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143892636"
     variation       1834
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200530931"
     variation       1835
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61748674"
     variation       1840
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367558632"
     variation       1846
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139147258"
     variation       1853
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376707119"
     variation       1862
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149938963"
     exon            1874..1950
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1912
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144324867"
     variation       1914
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113806279"
     variation       1948
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189412854"
     exon            1951..2091
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       1952
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139952525"
     variation       1953
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146093887"
     variation       1965
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146649976"
     variation       1966
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115088610"
     variation       1988..1989
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:145254247"
     variation       1988
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202038463"
     variation       2002
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201748605"
     variation       2003
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143492706"
     variation       2026
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150969919"
     variation       2031
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368127056"
     variation       2034
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200017029"
     variation       2084
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370251078"
     exon            2092..2160
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2124..2125
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:35337982"
     variation       2157
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367774759"
     exon            2161..2272
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2175
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141031280"
     variation       2178
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:41289357"
     variation       2183
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201334541"
     variation       2223
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374925853"
     variation       2236
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200743393"
     variation       2251
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150253908"
     exon            2273..2412
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2313
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373294467"
     variation       2354
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202154575"
     variation       2369
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377268290"
     variation       2404
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139267961"
     variation       2406
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182092749"
     exon            2413..2454
                     /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="g"
                     /replace="t"
                     /db_xref="dbSNP:200904492"
     variation       2441
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113651770"
     variation       2445
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143269665"
     exon            2455..2555
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2529
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370947787"
     variation       2539
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374447294"
     variation       2543
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147116663"
     exon            2556..2733
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2560
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191699496"
     variation       2567
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200271701"
     variation       2598
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368186698"
     variation       2624
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:61753800"
     variation       2627
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138287224"
     variation       2643
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:509474"
     variation       2660
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372067558"
     variation       2661
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373994966"
     variation       2680
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199745523"
     variation       2693
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35829704"
     variation       2725
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144276735"
     exon            2734..2841
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2740
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373771820"
     variation       2744
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377065684"
     variation       2747
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:148480818"
     variation       2754
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148753409"
     variation       2765
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142733823"
     variation       2820
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139919741"
     variation       2827
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377525704"
     exon            2842..2994
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       2877
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4929742"
     variation       2886
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:111409265"
     variation       2889
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202243690"
     variation       2925
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143439211"
     variation       2935
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:191040014"
     variation       2937
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:138934712"
     variation       2942
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368758631"
     variation       2951
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139088932"
     variation       2960
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115732448"
     variation       2963
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114123717"
     variation       2964
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138547580"
     variation       2965
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142116222"
     exon            2995..3115
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       3039
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375263198"
     variation       3049
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200722924"
     variation       3054
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370642786"
     variation       3078
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138361566"
     variation       3081
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:112855423"
     STS             3108..3275
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /standard_name="RH102196"
                     /db_xref="UniSTS:96530"
     variation       3108
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:55900774"
     variation       3109
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11558820"
     exon            3116..3477
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /inference="alignment:Splign:1.39.8"
     variation       3154
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2295733"
     variation       3166
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367856083"
     variation       3173
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371697769"
     variation       3198
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:186843447"
     variation       3199
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:191686584"
     variation       3204
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:7646"
     variation       3254
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183358582"
     variation       3289
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1047662"
     variation       3307..3310
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace=""
                     /replace="aatt"
                     /db_xref="dbSNP:369177303"
     variation       3308
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:189163715"
     STS             3326..3466
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /standard_name="STS-N30148"
                     /db_xref="UniSTS:45583"
     variation       3327
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146194360"
     variation       3390
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7543"
     variation       3409
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1047665"
     polyA_signal    3453..3458
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
     polyA_site      3477
                     /gene="MTHFD1L"
                     /gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
                     RP1-292B18.2"
ORIGIN      
cccctaggggcccctgggacgaggaggaagcgccaggtccttcccgccgccgccgccgccgccgccgcctgctcccctggcacgcgccccgccgccctcggcagccgcagctccgtgtcccctgagaaccagccgtcccgcgccatgggcacgcgtctgccgctcgtcctgcgccagctccgccgcccgccccagcccccgggccctccgcgccgcctccgtgtgccctgtcgcgctagcagcggcggcggcggaggcggcggcggtggccgggagggcctgcttggacagcggcggccgcaggatggccaggcccggagcagctgcagccccggcggccgaacgcccgcggcgcgggactccatcgtcagagaagtcattcagaattcaaaagaagttctaagtttattgcaagaaaaaaaccctgccttcaagccggttcttgcaattatccaggcaggtgacgacaacttgatgcaggaaatcaaccagaatttggctgaggaggctggtctgaacatcactcacatttgcctccctccagatagcagtgaagccgagattatagatgaaatcttaaagatcaatgaagataccagagtacatggccttgcccttcagatctctgagaacttgtttagcaacaaagtcctcaatgccttgaaaccagaaaaagatgtggatggagtaacagacataaacctggggaagctggtgcgaggggatgcccatgaatgttttgtttcacctgttgccaaagctgtaattgaacttcttgaaaaatcagtaggtgtcaacctagatggaaagaagattttggtagtgggggcccatgggtctttggaagctgctctacaatgcctgttccagagaaaagggtccatgacaatgagcatccagtggaaaacacgccagcttcaaagcaagcttcacgaggctgacattgtggtcctaggctcacctaagccagaagagattccccttacttggatacaaccaggaactactgttctcaactgctcccatgacttcctgtcagggaaggttgggtgtggctctccaagaatacattttggtggactcattgaggaagatgatgtgattctccttgctgcagctctgcgaattcagaacatggtcagtagtggaaggagatggcttcgtgaacagcagcacaggcggtggagacttcactgcttgaaacttcagcctctctcccctgtgccaagtgacattgagatttcaagaggacaaactccaaaagctgtggatgtccttgccaaggagattggattgcttgcagatgaaattgaaatctatggcaaaagcaaagccaaagtacgtttgtccgtgctagaaaggttaaaggatcaagcagatggaaaatacgtcttagttgctgggatcacacccacccctcttggagaagggaagagcacagtcaccatcgggcttgtgcaggctctgaccgcacacctgaatgtcaactcctttgcctgcttgaggcagccttcccaaggaccgacgtttggagtgaaaggaggagccgcgggtggtggatatgcccaggtcatccccatggaggagttcaaccttcacttgactggagacatccacgccatcaccgctgccaataacttgctggctgccgccatcgacacgaggattcttcatgaaaacacgcaaacagataaggctctgtataatcggctggttcctttagtgaatggtgtcagagaattttcagaaattcagcttgctcggctaaaaaaactgggaataaataagactgatccgagcacactgacagaagaggaagtgagtaaatttgcccgtctcgacatcgacccatctaccatcacgtggcagagagtattggatacaaatgaccgatttctacgaaaaataaccatcgggcagggaaacacagagaagggccattaccggcaggcgcagtttgacatcgcagtggccagcgagatcatggcggtgctggccctgacggacagcctcgcagacatgaaggcacggctgggaaggatggtggtggccagtgacaaaagcgggcagcctgtgacagcagatgatttgggggtgacaggtgctttgacagttttgatgaaagatgcaataaaaccaaacctgatgcagaccctggaagggacacctgtgttcgtgcatgcgggcccttttgctaacattgctcacggcaactcttcagtgttggctgataaaattgccctgaaactggttggtgaagaaggatttgtagtgaccgaagctggctttggtgctgacatcggaatggagaaattcttcaacatcaagtgccgagcttccggcttggtgcccaacgtggttgtgttagtggcaacggtgcgagctctgaagatgcatggaggcgggccaagtgtaacggctggtgttcctcttaagaaagaatatacagaggagaacatccagctggtggcagacggctgctgtaacctccagaagcaaattcagatcactcagctctttggggttcccgttgtggtggctctgaatgtcttcaagaccgacacccgcgctgagattgacttggtgtgtgagcttgcaaagcgggctggtgcctttgatgcagtcccctgctatcactggtccgttggtggaaaaggatcggtggacttggctcgggctgtgagagaggctgcgagtaaaagaagccgattccagttcctgtatgatgttcaggttccaattgtggacaagataaggaccattgctcaggctgtctatggagccaaagatattgaactctctcctgaggcacaagccaaaatagatcgttacactcaacagggttttggaaatttgcccatctgcatggcaaagacccacctttctctatctcaccaacctgacaaaaaaggtgtgccaagggacttcatcttacctatcagtgacgtccgggccagcataggcgctgggttcatttaccctttggtcggaacgatgagcaccatgccaggactgcccacccggccctgcttttatgacatagatcttgataccgaaacagaacaagttaaaggcttgttctaagtggacaaggctctcacaggacccgatgcagactcctgaaacagactactctttgcctttttgctgcagttggagaagaaactgaatttgaaaaatgtctgttatgcaatgctggagacatggtgaaataggccaaagatttcttcttcgttcaagatgaattctgttcacagtggagtatggtgttcggcaaaaggacctccaccaagactgaaagaaactaatttatttctgtttctgtggagtttccattatttctactgcttacactttagaatgtttattttatggggactaagggattaggagtgtgaactaaaaggtaacattttccactctcaagttttctactttgtctttgaactgaaaataaacatggatctagaaaaccaaaaaaaaaaaaaaa
//

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_001229696 -> EC 6.3.4.3

by @meso_cacase at DBCLS
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