RGD:15134674 Rat Genome Database

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Variant: RGD:15134674 -  Homo sapiens

RGD ID: 15134674
RS ID: rs779417680
ClinVar ID: CV684481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-1  SFTA3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 36,988,314
GRCh38 14 36,519,109
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.36519109C>A
NC_000014.8:g.36988314C>A
NM_001079668.2:c.339G>T
NP_001073136.1:p.Val113=
More... 		03/01/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX2-1
Accession:NM_003317
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSH
SAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAP
RRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGG
GTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQ
PGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTW*

Gene Symbol:NKX2-1
Accession:NM_001079668
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWSGGSGKARGWEAAAGGRSSPGRLSRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPT
AAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMG
PASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQ
NHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQA
QHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRT
W*

Gene Symbol:SFTA3
Accession:NR_138598
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138597
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161363
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161365
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161364
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138600
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138599
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138601
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161362
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000864174 CLINVAR
dbSNP (RS) rs779417680 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NKX2-1 CLINVAR
  SFTA3 CLINVAR
OMIM 600635 CLINVAR
  617860 CLINVAR