rs755023569 Rat Genome Database

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Variant: rs755023569 -  Homo sapiens

RGD ID: 152050426
RS ID: rs755023569
ClinVar ID: CV1530791
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS1  ZDHHC24  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 66,291,035
GRCh38 11 66,523,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001348571.2:c.*22-2098G>A
NM_024649.5:c.939C>T
NG_009093.1:g.17917C>T
NC_000011.10:g.66523564C>T
More... 		01/25/2024 intron variant likely benign BBS1-related condition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZDHHC24
Accession:NM_001348571
Location:3UTRS;INTRON

Gene Symbol:ZDHHC24
Accession:XM_005273874
Location:3UTRS;INTRON

Gene Symbol:BBS1
Accession:NM_024649
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTES
PLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIR
ETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILA
KMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKK
LWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIK
ILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLST
TAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGI
SDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA*

Gene Symbol:ZDHHC24
Accession:XM_047426710
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_011544893
Location:INTRON

Gene Symbol:ZDHHC24
Accession:NM_207340
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_047426709
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_011544894
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XR_949860
Location:INTRON;NON-CODING

Gene Symbol:ZDHHC24
Accession:XR_007062471
Location:INTRON;NON-CODING

Gene Symbol:ZDHHC24
Accession:XR_007062470
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002123100 CLINVAR
  RCV003933559 CLINVAR
dbSNP (RS) rs755023569 CLINVAR
MedGen C0752166 CLINVAR
NCBI Gene BBS1 CLINVAR
  ZDHHC24 CLINVAR
OMIM 209901 CLINVAR
SNOMED CT 5619004 CLINVAR