Home |
Help |
Advanced search
2024-04-25 19:15:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_015440 3487 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+
dependent) 1-like (MTHFD1L), transcript variant 2, mRNA.
ACCESSION NM_015440
VERSION NM_015440.4 GI:337756494
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 3487)
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 3487)
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 3487)
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 3487)
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 3487)
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 3487)
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 3487)
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 3487)
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 3487)
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 3487)
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, AY374130.1 and
BC110319.1.
On Jun 24, 2011 this sequence version replaced gi:40018634.
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 (2) uses an alternate in-frame
splice junction at the 5' end of an exon compared to variant 1. The
resulting isoform (2) has the same N- and C-termini but is 1 aa
shorter 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##
Transcript exon combination :: AY374130.1, AL117452.1 [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
1-37 DB727926.1 6-42
38-3200 AY374130.1 1-3163
3201-3487 BC110319.1 2823-3109
FEATURES Location/Qualifiers
source 1..3487
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q25.1"
gene 1..3487
/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="HPRD:09967"
/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..3081
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/EC_number="6.3.4.3"
/note="isoform 2 precursor is encoded by transcript
variant 2; 10-formyl-THF synthetase;
formyltetrahydrofolate synthetase domain containing 1;
monofunctional C1-tetrahydrofolate synthase,
mitochondrial"
/codon_start=1
/product="monofunctional C1-tetrahydrofolate synthase,
mitochondrial isoform 2 precursor"
/protein_id="NP_056255.2"
/db_xref="GI:36796743"
/db_xref="CCDS:CCDS5228.1"
/db_xref="GeneID:25902"
/db_xref="HGNC:21055"
/db_xref="HPRD:09967"
/db_xref="MIM:611427"
/translation="
MGTRLPLVLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSSCSPGGRTPAARDSIVREVIQNSKEVLSLLQEKNPAFKPVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEIIDEILKINEDTRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINLGKLVRGDAHECFVSPVAKAVIELLEKSGVNLDGKKILVVGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEIPLTWIQPGTTVLNCSHDFLSGKVGCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVPSDIEISRGQTPKAVDVLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGITPTPLGEGKSTVTIGLVQALTAHLNVNSFACLRQPSQGPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPLVNGVREFSEIQLARLKKLGINKTDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYRQAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASDKSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSVLADKIALKLVGEEGFVVTEAGFGADIGMEKFFNIKCRASGLVPNVVVLVATVRALKMHGGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDAVPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGFGNLPICMAKTHLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRPCFYDIDLDTETEQVKGLF
"
transit_peptide 145..237
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
mat_peptide 238..3078
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/product="monofunctional C1-tetrahydrofolate synthase,
mitochondrial isoform 2"
misc_feature 358..>1008
/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..1149
/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(826..831,895..900,955..957,1015..1017)
/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 1198..3078
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/note="Formate--tetrahydrofolate ligase; Region: PLN02759"
/db_xref="CDD:178359"
misc_feature 1273..3027
/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(1504..1506,1606..1608)
/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(1504..1509,1585..1593)
/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..924
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 800
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150695212"
variation 803
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:188595740"
variation 852
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370852407"
variation 871
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139687564"
variation 887
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200812230"
variation 889
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/db_xref="dbSNP:376881399"
variation 907
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142599909"
variation 912
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:144664749"
exon 925..1036
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 960
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:147477487"
exon 1037..1128
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1037
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143283631"
variation 1057
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:190251947"
variation 1093
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371885160"
variation 1094
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374371626"
variation 1119
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368433166"
exon 1129..1226
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1180
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:74451809"
variation 1184
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113242883"
exon 1227..1400
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1251
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/db_xref="dbSNP:367598413"
variation 1261
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:186968414"
variation 1268
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:61754784"
variation 1273
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374456985"
variation 1280
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145541103"
variation 1281
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376629055"
variation 1282
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370374961"
variation 1306
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148879377"
variation 1313
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142684557"
variation 1339
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:151023222"
variation 1340
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200840782"
exon 1401..1537
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1446
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140780101"
variation 1467
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144622007"
variation 1470
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200947559"
variation 1520
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146669423"
variation 1524
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371570169"
variation 1529
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:376651691"
exon 1538..1584
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1541
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372597629"
variation 1581
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200928626"
exon 1585..1692
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1614
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140272082"
variation 1622
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373263570"
variation 1647
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140112064"
variation 1649
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376972964"
variation 1680
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:186295565"
exon 1693..1767
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1693
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373281795"
variation 1700
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138249315"
variation 1706
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149625114"
variation 1707
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200434757"
variation 1713
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="t"
/db_xref="dbSNP:375404857"
variation 1724
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138991456"
exon 1768..1870
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1773
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143391077"
variation 1782
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="t"
/db_xref="dbSNP:148383692"
variation 1794
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143332247"
variation 1798
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201027728"
variation 1809
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200778327"
variation 1813
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147450268"
variation 1816
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139875348"
variation 1820
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143892636"
variation 1831
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200530931"
variation 1832
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:61748674"
variation 1837
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367558632"
variation 1843
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139147258"
variation 1850
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/db_xref="dbSNP:376707119"
variation 1859
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149938963"
exon 1871..1947
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1909
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144324867"
variation 1911
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113806279"
variation 1945
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:189412854"
exon 1948..2088
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 1949
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139952525"
variation 1950
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146093887"
variation 1962
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146649976"
variation 1963
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:115088610"
variation 1985..1986
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace=""
/replace="g"
/db_xref="dbSNP:145254247"
variation 1985
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202038463"
variation 1999
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201748605"
variation 2000
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143492706"
variation 2023
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:150969919"
variation 2028
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:368127056"
variation 2031
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200017029"
variation 2081
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370251078"
exon 2089..2157
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2121..2122
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace=""
/replace="a"
/db_xref="dbSNP:35337982"
variation 2154
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367774759"
exon 2158..2269
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2172
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141031280"
variation 2175
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:41289357"
variation 2180
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201334541"
variation 2220
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374925853"
variation 2233
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200743393"
variation 2248
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150253908"
exon 2270..2409
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2310
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373294467"
variation 2351
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:202154575"
variation 2366
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377268290"
variation 2401
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139267961"
variation 2403
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:182092749"
exon 2410..2451
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2421
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200904492"
variation 2438
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113651770"
variation 2442
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143269665"
exon 2452..2552
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2526
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:370947787"
variation 2536
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374447294"
variation 2540
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147116663"
exon 2553..2730
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2557
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:191699496"
variation 2564
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200271701"
variation 2595
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/db_xref="dbSNP:368186698"
variation 2621
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:61753800"
variation 2624
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:138287224"
variation 2640
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:509474"
variation 2657
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372067558"
variation 2658
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373994966"
variation 2677
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:199745523"
variation 2690
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35829704"
variation 2722
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144276735"
exon 2731..2838
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2737
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373771820"
variation 2741
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377065684"
variation 2744
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="t"
/db_xref="dbSNP:148480818"
variation 2751
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148753409"
variation 2762
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142733823"
variation 2817
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139919741"
variation 2824
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377525704"
exon 2839..2991
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 2874
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:4929742"
variation 2883
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111409265"
variation 2886
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:202243690"
variation 2922
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:143439211"
variation 2932
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/db_xref="dbSNP:191040014"
variation 2934
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="t"
/db_xref="dbSNP:138934712"
variation 2939
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368758631"
variation 2948
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139088932"
variation 2957
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:115732448"
variation 2960
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:114123717"
variation 2961
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138547580"
variation 2962
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142116222"
exon 2992..3112
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 3036
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:375263198"
variation 3046
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200722924"
variation 3051
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370642786"
variation 3075
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138361566"
variation 3078
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:112855423"
STS 3105..3272
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/standard_name="RH102196"
/db_xref="UniSTS:96530"
variation 3105
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:55900774"
variation 3106
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/db_xref="dbSNP:11558820"
exon 3113..3474
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/inference="alignment:Splign:1.39.8"
variation 3151
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2295733"
variation 3163
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367856083"
variation 3170
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371697769"
variation 3195
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:186843447"
variation 3196
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:191686584"
variation 3201
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:7646"
variation 3251
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:183358582"
variation 3286
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1047662"
variation 3304..3307
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace=""
/replace="aatt"
/db_xref="dbSNP:369177303"
variation 3305
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="c"
/db_xref="dbSNP:189163715"
STS 3323..3463
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/standard_name="STS-N30148"
/db_xref="UniSTS:45583"
variation 3324
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="c"
/replace="g"
/db_xref="dbSNP:146194360"
variation 3387
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:7543"
variation 3406
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1047665"
polyA_signal 3450..3455
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
polyA_site 3474
/gene="MTHFD1L"
/gene_synonym="dJ292B18.2; FTHFSDC1; MTC1THFS;
RP1-292B18.2"
ORIGIN
cccctaggggcccctgggacgaggaggaagcgccaggtccttcccgccgccgccgccgccgccgccgcctgctcccctggcacgcgccccgccgccctcggcagccgcagctccgtgtcccctgagaaccagccgtcccgcgccatgggcacgcgtctgccgctcgtcctgcgccagctccgccgcccgccccagcccccgggccctccgcgccgcctccgtgtgccctgtcgcgctagcagcggcggcggcggaggcggcggcggtggccgggagggcctgcttggacagcggcggccgcaggatggccaggcccggagcagctgcagccccggcggccgaacgcccgcggcgcgggactccatcgtcagagaagtcattcagaattcaaaagaagttctaagtttattgcaagaaaaaaaccctgccttcaagccggttcttgcaattatccaggcaggtgacgacaacttgatgcaggaaatcaaccagaatttggctgaggaggctggtctgaacatcactcacatttgcctccctccagatagcagtgaagccgagattatagatgaaatcttaaagatcaatgaagataccagagtacatggccttgcccttcagatctctgagaacttgtttagcaacaaagtcctcaatgccttgaaaccagaaaaagatgtggatggagtaacagacataaacctggggaagctggtgcgaggggatgcccatgaatgttttgtttcacctgttgccaaagctgtaattgaacttcttgaaaaatcaggtgtcaacctagatggaaagaagattttggtagtgggggcccatgggtctttggaagctgctctacaatgcctgttccagagaaaagggtccatgacaatgagcatccagtggaaaacacgccagcttcaaagcaagcttcacgaggctgacattgtggtcctaggctcacctaagccagaagagattccccttacttggatacaaccaggaactactgttctcaactgctcccatgacttcctgtcagggaaggttgggtgtggctctccaagaatacattttggtggactcattgaggaagatgatgtgattctccttgctgcagctctgcgaattcagaacatggtcagtagtggaaggagatggcttcgtgaacagcagcacaggcggtggagacttcactgcttgaaacttcagcctctctcccctgtgccaagtgacattgagatttcaagaggacaaactccaaaagctgtggatgtccttgccaaggagattggattgcttgcagatgaaattgaaatctatggcaaaagcaaagccaaagtacgtttgtccgtgctagaaaggttaaaggatcaagcagatggaaaatacgtcttagttgctgggatcacacccacccctcttggagaagggaagagcacagtcaccatcgggcttgtgcaggctctgaccgcacacctgaatgtcaactcctttgcctgcttgaggcagccttcccaaggaccgacgtttggagtgaaaggaggagccgcgggtggtggatatgcccaggtcatccccatggaggagttcaaccttcacttgactggagacatccacgccatcaccgctgccaataacttgctggctgccgccatcgacacgaggattcttcatgaaaacacgcaaacagataaggctctgtataatcggctggttcctttagtgaatggtgtcagagaattttcagaaattcagcttgctcggctaaaaaaactgggaataaataagactgatccgagcacactgacagaagaggaagtgagtaaatttgcccgtctcgacatcgacccatctaccatcacgtggcagagagtattggatacaaatgaccgatttctacgaaaaataaccatcgggcagggaaacacagagaagggccattaccggcaggcgcagtttgacatcgcagtggccagcgagatcatggcggtgctggccctgacggacagcctcgcagacatgaaggcacggctgggaaggatggtggtggccagtgacaaaagcgggcagcctgtgacagcagatgatttgggggtgacaggtgctttgacagttttgatgaaagatgcaataaaaccaaacctgatgcagaccctggaagggacacctgtgttcgtgcatgcgggcccttttgctaacattgctcacggcaactcttcagtgttggctgataaaattgccctgaaactggttggtgaagaaggatttgtagtgaccgaagctggctttggtgctgacatcggaatggagaaattcttcaacatcaagtgccgagcttccggcttggtgcccaacgtggttgtgttagtggcaacggtgcgagctctgaagatgcatggaggcgggccaagtgtaacggctggtgttcctcttaagaaagaatatacagaggagaacatccagctggtggcagacggctgctgtaacctccagaagcaaattcagatcactcagctctttggggttcccgttgtggtggctctgaatgtcttcaagaccgacacccgcgctgagattgacttggtgtgtgagcttgcaaagcgggctggtgcctttgatgcagtcccctgctatcactggtccgttggtggaaaaggatcggtggacttggctcgggctgtgagagaggctgcgagtaaaagaagccgattccagttcctgtatgatgttcaggttccaattgtggacaagataaggaccattgctcaggctgtctatggagccaaagatattgaactctctcctgaggcacaagccaaaatagatcgttacactcaacagggttttggaaatttgcccatctgcatggcaaagacccacctttctctatctcaccaacctgacaaaaaaggtgtgccaagggacttcatcttacctatcagtgacgtccgggccagcataggcgctgggttcatttaccctttggtcggaacgatgagcaccatgccaggactgcccacccggccctgcttttatgacatagatcttgataccgaaacagaacaagttaaaggcttgttctaagtggacaaggctctcacaggacccgatgcagactcctgaaacagactactctttgcctttttgctgcagttggagaagaaactgaatttgaaaaatgtctgttatgcaatgctggagacatggtgaaataggccaaagatttcttcttcgttcaagatgaattctgttcacagtggagtatggtgttcggcaaaaggacctccaccaagactgaaagaaactaatttatttctgtttctgtggagtttccattatttctactgcttacactttagaatgtttattttatggggactaagggattaggagtgtgaactaaaaggtaacattttccactctcaagttttctactttgtctttgaactgaaaataaacatggatctagaaaaccaaaaaaaaaaaaaaa
//
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_056255 -> EC 6.3.4.3
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.