RGD:13532726 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13532726 -  Homo sapiens

RGD ID: 13532726
RS ID: rs754281828
ClinVar ID: CV501746
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDSS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 107,780,409
GRCh38 6 107,459,205
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.107459205C>T
NC_000006.11:g.107780409C>T
NP_065114.3:p.Pro27=
NG_013033.1:g.5371G>A
More...
03/13/2017 synonymous variant likely benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDSS2
Accession:XM_011535960
Location:5UTRS;INTRON

Gene Symbol:PDSS2
Accession:XM_047419100
Location:5UTRS;INTRON

Gene Symbol:PDSS2
Accession:XM_047419098
Location:5UTRS;INTRON

Gene Symbol:PDSS2
Accession:NM_020381
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD
DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVL
HQEFLGRDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_011535957
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD
DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKAQEKGRLDYAKERGLAVTQTGDAFFMTQ
RMPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKAGKGVTSAIDLCRYHGNKALEALES
FPPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_011535958
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL
LQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGK
HMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKERGLAVTQTGDAFFMTQR
MPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKAGKGVTSAIDLCRYHGNKALEALESF
PPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_011535956
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD
DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVL
HQEFLGRDLWIKQIGEAQEKGRLDYAKERGLAVTQTGDAFFMTQRMPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPG
PSNGSATNSMQNLLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_011535961
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKAQEKGR
LDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_011535959
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD
DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKAQEKGRLDYAKLRERIKAGKGVTSAIDL
CRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_011535963
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKSFSFNGPIAIYQMGDCESAWILSKHPRALS
*

Gene Symbol:PDSS2
Accession:XM_017011082
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD
DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVL
HQEFLGRDLWIKQIGESSSTEVQLSNFQQMLLSTLLSTA*

Gene Symbol:PDSS2
Accession:XM_047419101
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL
LQNTKVVELLASALMDLVQGVYHENSTSKAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSA
LENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_047419099
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL
LQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGK
HMAMSHKAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_047419097
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL
LQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGK
HMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTSAIDLC
RYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:PDSS2
Accession:XM_047419096
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI
AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL
VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKAQEKGR
LDYAKERGLAVTQTGDAFFMTQRMPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKAGK
GVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000601455 CLINVAR
  RCV002063004 CLINVAR
  RCV002491251 CLINVAR
dbSNP (RS) rs754281828 CLINVAR
MedGen C3553358 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene PDSS2 CLINVAR
OMIM 610564 CLINVAR
  614652 CLINVAR