RGD:155932502 Rat Genome Database

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Variant: RGD:155932502 -  Homo sapiens

RGD ID: 155932502
ClinVar ID: CV2364405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTK2B  TRIM35  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 27,168,736
GRCh38 8 27,311,219
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_055881.1:p.Asp6Gly
NP_741983.2:p.Asp6Gly
NM_171982.5:c.17A>G
NM_001304495.2:c.17A>G
More... 		08/17/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTK2B
Accession:XM_047421545
Location:5UTRS;INTRON

Gene Symbol:PTK2B
Accession:XM_047421552
Location:5UTRS;INTRON

Gene Symbol:PTK2B
Accession:XM_047421544
Location:5UTRS;INTRON

Gene Symbol:TRIM35
Accession:NM_001304495
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERSPAVSPGPSRSFKEELLCAVCYDPFRDAVTLRCGHNFCRGCVSRCWEVQVSPTCPVCKDRASPADLRTNHTLNNLVE
KLLREEAEGARWTSYRFSRVCRLHRGQLSLFCLEDKELLCCSCQADPRHQGHRVQPVKDTAHDFRVEAAWLEGRIRQEFD
KLREFLRVEEQAILDAMAEETRQKQLLADEKMKQLTEETEVLAHEIERLQMEMKEDDVSFLMTLLHHGARASPARHAYRC
LQVPGLPAVPRLEEDACICGICTLQL*

Gene Symbol:TRIM35
Accession:NM_171982
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERSPAVSPGPSRSFKEELLCAVCYDPFRDAVTLRCGHNFCRGCVSRCWEVQVSPTCPVCKDRASPADLRTNHTLNNLVE
KLLREEAEGARWTSYRFSRVCRLHRGQLSLFCLEDKELLCCSCQADPRHQGHRVQPVKDTAHDFRAKCRNMEHALREKAK
AFWAMRRSYEAIAKHNQVEAAWLEGRIRQEFDKLREFLRVEEQAILDAMAEETRQKQLLADEKMKQLTEETEVLAHEIER
LQMEMKEDDVSFLMKHKSRKRRLFCTMEPEPVQPGMLIDVCKYLGSLQYRVWKKMLASVESVPFSFDPNTAAGWLSVSDD
LTSVTNHGYRVQVENPERFSSAPCLLGSRVFSQGSHAWEVALGGLQSWRVGVVRVRQDSGAEGHSHSCYHDTRSGFWYVC
RTQGVEGDHCVTSDPATSPLVLAIPRRLRVELECEEGELSFYDAERHCHLYTFHARFGEVRPYFYLGGARGAGPPEPLRI
CPLHISVKEELDG*

Gene Symbol:TRIM35
Accession:NM_001362813
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERSPAVSPGPSRSFKEELLCAVCYDPFRDAVTLRCGHNFCRGCVSRCWEVQVSPTCPVCKDRASPADLRTNHTLNNLVE
KLLREEAEGARWTSYRFSRVCRLHRGQLSLFCLEDKELLCCSCQADPRHQGHRVQPVKDTAHDFRAKCRNMEHALREKAK
AFWAMRRSYEAIAKHNQVEAAWLEGRIRQEFDKLREFLRVEEQAILDAMAEETRQKQLLADEKMKQLTEETEVLAHEIER
LQMEMKEDDVSFLMTLLHHGARASPARHAYRCLQVPGLPAVPRLEEDACICGICTLQL*

Gene Symbol:PTK2B
Accession:XM_011544441
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421558
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_017013216
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421551
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421547
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421536
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421553
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_005273447
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421549
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421561
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421534
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421559
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421564
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421542
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_011544442
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421533
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421539
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421540
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_017013214
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421532
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421563
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421548
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421556
Location:INTRON

Gene Symbol:PTK2B
Accession:NM_173175
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_017013215
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421543
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421531
Location:INTRON

Gene Symbol:PTK2B
Accession:NM_173176
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421535
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421537
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421538
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421541
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421562
Location:INTRON

Gene Symbol:TRIM35
Accession:XM_047421602
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421546
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421560
Location:INTRON

Gene Symbol:PTK2B
Accession:NM_173174
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421557
Location:INTRON

Gene Symbol:PTK2B
Accession:NM_004103
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421555
Location:INTRON

Gene Symbol:PTK2B
Accession:XM_047421550
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002684378 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PTK2B CLINVAR
  TRIM35 CLINVAR
OMIM 601212 CLINVAR
  617007 CLINVAR