RGD:15118493 Rat Genome Database

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Variant: RGD:15118493 -  Homo sapiens

RGD ID: 15118493
RS ID: rs572484690
ClinVar ID: CV693477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827406  NKX2-1  SFTA3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 36,987,038
GRCh38 14 36,517,833
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003317.4:c.561G>A
NM_001079668.3:c.651G>A
NG_013365.1:g.7393G>A
NC_000014.9:g.36517833C>T
More... 		10/24/2022 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX2-1
Accession:NM_003317
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 187
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: S to S (synonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWSGGSGKARGWEAAAGGRSSPGRLSRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPT
AAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMG
PASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQ
NHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQA
QHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRT
W*

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

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

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

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

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

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

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

Gene Symbol:SFTA3
Accession:NR_161363
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 RCV000873703 CLINVAR
dbSNP (RS) rs572484690 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NKX2-1 CLINVAR
  SFTA3 CLINVAR
OMIM 600635 CLINVAR
  617860 CLINVAR