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2025-05-09 18:53:09, 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 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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