RGD:150471958 Rat Genome Database

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Variant: RGD:150471958 -  Homo sapiens

RGD ID: 150471958
RS ID: rs1058446
ClinVar ID: CV1259218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NANS  TRIM14  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 100,823,135
GRCh38 9 98,060,853
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018946.4:c.204G>C
NG_052789.1:g.9177G>C
NC_000009.12:g.98060853G>C
NC_000009.11:g.100823135G>C
More... 		12/18/2021 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TRIM14
Accession:XM_047424162
Location:3UTRS;INTRON

Gene Symbol:NANS
Accession:NM_018946
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEFKFNRKALERPYTSKHSWGKT
YGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQ
SMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVNLRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHIT
LDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPK
GYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS*

Gene Symbol:NANS
Accession:XM_047423476
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_011519244
Location:INTRON

Gene Symbol:NANS
Accession:XM_011518788
Location:INTRON

Gene Symbol:NANS
Accession:XM_011518787
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_017015353
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_005252320
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_047424164
Location:INTRON

Gene Symbol:TRIM14
Accession:NM_014788
Location:INTRON

Gene Symbol:TRIM14
Accession:NM_033219
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_047424161
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_047424163
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_047424160
Location:INTRON

Gene Symbol:TRIM14
Accession:XR_929880
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001684463 CLINVAR
dbSNP (RS) rs1058446 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NANS CLINVAR
  TRIM14 CLINVAR
OMIM 605202 CLINVAR
  606556 CLINVAR