rs1553127237 Rat Genome Database

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Variant: rs1553127237 -  Homo sapiens

RGD ID: 13609313
RS ID: rs1553127237
ClinVar ID: CV515846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127268605  S100PBP  YARS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 33,282,805
GRCh38 1 32,817,204
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_273t1:c.41T>C
LRG_273:g.5829T>C
NG_008408.1:g.5829T>C
NC_000001.11:g.32817204A>G
More... 		02/14/2023 missense variant uncertain significance CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS1
Accession:XM_011542347
Location:5UTRS;EXON

Gene Symbol:S100PBP
Accession:XM_011541962
Location:5UTRS;INTRON

Gene Symbol:YARS1
Accession:NM_003680
Location:EXON
Amino Acid Prediction: I to S (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDAPSPEEKLHLSTRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYL
DNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSKKAGAEVVKQVEHPL
LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSSSEEESKIDLLDRKED
VKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKL
LDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKIDVGEAEPR
TVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINRQVEPLDPPAGSAPGEHVFVKGYEKGQPDEE
LKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*

Gene Symbol:S100PBP
Accession:XM_024449176
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428039
Location:INTRON

Gene Symbol:S100PBP
Accession:NM_001256121
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428024
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428038
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428029
Location:INTRON

Gene Symbol:S100PBP
Accession:NM_022753
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428023
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428041
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_024449177
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428036
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428037
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_017002098
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_011541963
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_011541961
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428035
Location:INTRON

Gene Symbol:S100PBP
Accession:XM_047428040
Location:INTRON

Gene Symbol:S100PBP
Accession:NR_135107
Location:INTRON;NON-CODING

Gene Symbol:S100PBP
Accession:NR_135106
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000640568 CLINVAR
dbSNP (RS) rs1553127237 CLINVAR
MedGen C1842237 CLINVAR
NCBI Gene S100PBP CLINVAR
  YARS CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR
  611889 CLINVAR