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2024-04-19 16:32:50, 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 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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