rs2131129450 Rat Genome Database

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Variant: rs2131129450 -  Homo sapiens

RGD ID: 126911701
RS ID: rs2131129450
ClinVar ID: CV1045914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOLK  LOC127816175  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 131,709,549
GRCh38 9 128,947,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017009.1:g.5464C>A
NC_000009.12:g.128947270G>T
NC_000009.11:g.131709549G>T
NP_055723.1:p.Pro12Thr
More... 		08/24/2021 missense variant uncertain significance Carbohydrate deficient glycoprotein syndrome type 1m; CDG Im; Congenital disorder of glycosylation type 1M; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; DK1 DEFICIENCY; DK1-CDG; DOLICHOL KINASE DEFICIENCY; DOLK-congenital disorder of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DOLK
Accession:NM_014908
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRECPSPAPGTGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSG
LLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS
VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF
FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNA
KRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERD
SGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI
FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001369347 CLINVAR
dbSNP (RS) rs2131129450 CLINVAR
MedGen C1835849 CLINVAR
NCBI Gene DOLK CLINVAR
OMIM 610746 CLINVAR
  610768 CLINVAR
SNOMED CT 718712005 CLINVAR