RGD:15168940 Rat Genome Database

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Variant: RGD:15168940 -  Homo sapiens

RGD ID: 15168940
RS ID: rs183694577
ClinVar ID: CV735394
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 12,292,615
GRCh38 6 12,292,382
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001955.5:c.106G>A
NG_016196.1:g.7087G>A
NC_000006.12:g.12292382G>A
NC_000006.11:g.12292615G>A
More... 		01/03/2019 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EDN1
Accession:NM_001168319
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHVV
PYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLV
RGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHV
VPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQL
VRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:EDN1
Accession:NM_001416565
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHV
VPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQL
VRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHVV
PYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLV
RGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHV
VPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQL
VRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:EDN1
Accession:NM_001955
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHV
VPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQL
VRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHV
VPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQL
VRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:EDN1
Accession:NM_001416564
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHV
VPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQL
VRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*

Gene Symbol:EDN1
Accession:NM_001416563
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGREKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHV
VPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQL
VRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000904959 CLINVAR
dbSNP (RS) rs183694577 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EDN1 CLINVAR
OMIM 131240 CLINVAR