RGD:150472691 Rat Genome Database

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Variant: RGD:150472691 -  Homo sapiens

RGD ID: 150472691
RS ID: rs74549886
ClinVar ID: CV1281265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PANX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 93,913,392
GRCh38 11 94,180,226
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015368.4:c.1170G>T
NG_027936.1:g.56299G>T
NC_000011.10:g.94180226G>T
NC_000011.9:g.93913392G>T
More... 		06/10/2021 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PANX1
Accession:NM_015368
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIAQLATEYVFSDFLLKEPTEPKFKGLRLELAVDKMVTCIAVGLPLLLISLAFAQEISIGTQISCFSPSSFSWRQAAFV
DSYCWAAVQQKNSLQSESGNLPLWLHKFFPYILLLFAILLYLPPLFWRFAAAPHICSDLKFIMEELDKVYNRAIKAAKSA
RDLDMRDGACSVPGVTENLGQSLWEVSESHFKYPIVEQYLKTKKNSNNLIIKYISCRLLTLIIILLACIYLGYYFSLSSL
SDEFVCSIKSGILRNDSTVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFRQKTDVLKVYEILPTFDVLHF
KSEGYNDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQGIDPMLLLTNLGMIKMDVVDGKTPMSAEMRDEQGNQTAELQ
GMNIDSETKANNGEKNARQRLLDSSC*

Gene Symbol:PANX1
Accession:XM_011542734
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELDKVYNRAIKAAKSARDLDMRDGACSVPGVTENLGQSLWEVSESHFKYPIVEQYLKTKKNSNNLIIKYISCRLLTLI
IILLACIYLGYYFSLSSLSDEFVCSIKSGILRNDSTVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFRQK
TDVLKVYEILPTFDVLHFKSEGYNDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQGIDPMLLLTNLGMIKMDVVDGKT
PMSAEMRDEQGNQTAELQGMNIDSETKANNGEKNARQRLLDSSC*

Gene Symbol:PANX1
Accession:XM_047426702
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELDKVYNRAIKAAKSARDLDMRDGACSVPGVTENLGQSLWEVSESHFKYPIVEQYLKTKKNSNNLIIKYISCRLLTLI
IILLACIYLGYYFSLSSLSDEFVCSIKSGILRNDSTVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFRQK
TDVLKVYEILPTFDVLHFKSEGYNDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQGIDPMLLLTNLGMIKMDVVDGKT
PMSAEMRDEQGNQTAELQGMNIDSETKANNGEKNARQRLLDSSC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001713409 CLINVAR
dbSNP (RS) rs74549886 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PANX1 CLINVAR
OMIM 608420 CLINVAR