RGD:151718071 Rat Genome Database

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Variant: RGD:151718071 -  Homo sapiens

RGD ID: 151718071
RS ID: rs760130182
ClinVar ID: CV1368980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFD1  ZBTB25  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 64,921,541
GRCh38 14 64,454,823
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1243t1:c.2666G>A
NG_012450.2:g.71783G>A
NC_000014.9:g.64454823G>A
NM_001304508.1:c.174-5185C>T
More... 		12/15/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MTHFD1
Accession:NM_005956
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 889
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESE
VMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETG
VPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINY
VPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDI
DISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAH
LYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLV
PSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQ
FDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFA
NIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLP
KAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQ
AVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGV
PTGFILPIHDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF*

Gene Symbol:MTHFD1
Accession:NM_001364837
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 889
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESE
VMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETG
VPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINY
VPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDI
DISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAH
LYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLV
PSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQ
FDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFA
NIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLP
KAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQ
AVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGV
PTGFILPIHDIRASVGAGFLYPLVGTITIHLQEATLKVWPVSIQAHWELGSISKPREVSPCPEDLKLIVGVSPEVIFSLN
SHHV*

Gene Symbol:ZBTB25
Accession:NM_001354683
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001304508
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354685
Location:INTRON

Gene Symbol:ZBTB25
Accession:XM_047431770
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354686
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001304507
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354682
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_006977
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354684
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354687
Location:INTRON

Gene Symbol:ZBTB25
Accession:XR_943522
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002028213 CLINVAR
dbSNP (RS) rs760130182 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MTHFD1 CLINVAR
  ZBTB25 CLINVAR
OMIM 172460 CLINVAR
  194541 CLINVAR