RGD:156138712 Rat Genome Database

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Pathways
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Variant: RGD:156138712 -  Homo sapiens

RGD ID: 156138712
ClinVar ID: CV2250300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASB14  LOC105377102  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 57,311,929
GRCh38 3 57,277,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142733.3:c.1451T>C
NM_130387.5:c.596T>C
NC_000003.12:g.57277901A>G
NC_000003.11:g.57311929A>G
More... 		01/03/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ASB14
Accession:NM_130387
Location:EXON
Amino Acid Prediction: L to W (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKCILKFFLRALKILIPVTDLAAIKQSGISPVHCAAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVS
NSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYELISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGY
DTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCEVITWSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIH
FILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFLPLPNRLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:ASB14
Accession:NM_001142733
Location:EXON
Amino Acid Prediction: L to W (nonsynonymous)
Amino Acid Position: 484
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE
IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR
DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA
NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGHLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC
AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE
LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE
VITWSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL
PLPNRLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:ASB14
Accession:XM_017005736
Location:EXON
Amino Acid Prediction: L to W (nonsynonymous)
Amino Acid Position: 484
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE
IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR
DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA
NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGHLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC
AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE
LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE
VITWSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL
PLPNRLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:ASB14
Accession:XM_017005737
Location:EXON
Amino Acid Prediction: L to W (nonsynonymous)
Amino Acid Position: 484
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE
IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR
DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA
NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGHLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC
AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE
LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE
VITWSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL
PLPNRLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:LOC105377102
Accession:NR_135535
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004127198 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ASB14 CLINVAR
  LOC105377102 CLINVAR