RGD:15153883 Rat Genome Database

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Variant: RGD:15153883 -  Homo sapiens

RGD ID: 15153883
RS ID: rs116451395
ClinVar ID: CV711663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTDSS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 97,332,537
GRCh38 8 96,320,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014754.3:c.1137C>G
NM_001290225.2:c.699C>G
NG_034054.1:g.63424C>G
NC_000008.11:g.96320309C>G
More... 		06/12/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PTDSS1
Accession:NM_014754
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFF
LIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWER
IISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFL
EMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLS
WGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLY
GMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK*

Gene Symbol:PTDSS1
Accession:NM_001290225
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCN
GGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFF
LKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVL
WLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKV
TNGVGKK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000968628 CLINVAR
dbSNP (RS) rs116451395 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PTDSS1 CLINVAR
OMIM 612792 CLINVAR