RGD:155995218 Rat Genome Database

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Variant: RGD:155995218 -  Homo sapiens

RGD ID: 155995218
ClinVar ID: CV2278057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRP68  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 74,063,361
GRCh38 17 76,067,280
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001260502.2:c.251+3098A>G
NM_014230.4:c.302A>G
NC_000017.11:g.76067280T>C
NC_000017.10:g.74063361T>C
More... 		06/28/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SRP68
Accession:NM_014230
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEKQVPGGGGGGGSGGGGGSGGGGSGGGRGAGGEENKENERPSAGSKANKEFGDSLSLEILQIIKESQQQHGLRHGDF
QRYRGYCSRRQRRLRKTLNFRMGNRHKFTGKKVTEELLTDNRYLLLVLMDAERAWSYAMQLKQEANTEPRKRFHLLSRLR
KAVKHAEELERLCESNRVDAKTKLEAQAYTAYLSGMLRFEHQEWKAAIEAFNKCKTIYEKLASAFTEEQAVLYNQRVEEI
SPNIRYCAYNIGDQSAINELMQMRLRSGGTEGLLAEKLEALITQTRAKQAATMSEVEWRGRTVPVKIDKVRIFLLGLADN
EAAIVQAESEETKERLFESMLSECRDAIQVVREELKPDQKQRDYILEGEPGKVSNLQYLHSYLTYIKLSTAIKRNENMAK
GLQRALLQQQPEDDSKRSPRPQDLIRLYDIILQNLVELLQLPGLEEDKAFQKEIGLKTLVFKAYRCFFIAQSYVLVKKWS
EALVLYDRVLKYANEVNSDAGAFKNSLKDLPDVQELITQVRSEKCSLQAAAILDANDAHQTETSSSQVKDNKPLVERFET
FCLDPSLVTKQANLVHFPPGFQPIPCKPLFFDLALNHVAFPPLEDKLEQKTKSGLTGYIKGIFGFRS*

Gene Symbol:SRP68
Accession:NR_048541
Location:EXON;NON-CODING

Gene Symbol:SRP68
Accession:NM_001260502
Location:INTRON

Gene Symbol:SRP68
Accession:NM_001260503
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004141280 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SRP68 CLINVAR
OMIM 604858 CLINVAR