RGD:15162397 Rat Genome Database

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Variant: RGD:15162397 -  Homo sapiens

RGD ID: 15162397
RS ID: rs149684214
ClinVar ID: CV751867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NANS  TRIM14  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 100,845,220
GRCh38 9 98,082,938
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.963C>A
NG_052789.1:g.31262C>A
NC_000009.12:g.98082938C>A
NC_000009.11:g.100845220C>A
More... 		05/18/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TRIM14
Accession:XM_005252320
Location:3UTRS;EXON

Gene Symbol:TRIM14
Accession:XM_047424163
Location:3UTRS;EXON

Gene Symbol:TRIM14
Accession:XM_047424162
Location:3UTRS;INTRON

Gene Symbol:TRIM14
Accession:XM_047424161
Location:3UTRS;INTRON

Gene Symbol:TRIM14
Accession:XM_017015353
Location:3UTRS;INTRON

Gene Symbol:TRIM14
Accession:XM_047424160
Location:3UTRS;INTRON

Gene Symbol:NANS
Accession:XM_011518787
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVN
LRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSP
TKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKK
IKS*

Gene Symbol:NANS
Accession:XM_047423476
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVN
LRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSP
TKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKK
IKS*

Gene Symbol:NANS
Accession:XM_011518788
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHFSKLDLETLIIFLIWKRQPKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVNLRVISEYQK
LFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEM
ACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS*

Gene Symbol:NANS
Accession:NM_018946
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEFKFNRKALERPYTSKHSWGKT
YGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQ
SMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVNLRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHIT
LDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPK
GYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS*

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

Gene Symbol:TRIM14
Accession:NM_014788
Location:INTRON

Gene Symbol:TRIM14
Accession:NM_033219
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_011519244
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_047424164
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000925882 CLINVAR
dbSNP (RS) rs149684214 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NANS CLINVAR
  TRIM14 CLINVAR
OMIM 605202 CLINVAR
  606556 CLINVAR