rs376002658 Rat Genome Database

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Variant: rs376002658 -  Homo sapiens

RGD ID: 127293376
RS ID: rs376002658
ClinVar ID: CV1128207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCOLN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 7,591,778
GRCh38 19 7,526,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015806.1:g.9283C>T
NM_020533.3:c.537C>T
NC_000019.10:g.7526892C>T
NC_000019.9:g.7591778C>T
More... 		01/25/2024 synonymous variant likely benign ML 4; ML IV; Mucolipidosis type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCOLN1
Accession:NM_020533
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQL
ILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNG
SGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTI
NLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSL
LRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVG
VIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAM
QAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSA
CSLLCCCGRDPSEEHSLLVN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001459216 CLINVAR
  RCV002350932 CLINVAR
dbSNP (RS) rs376002658 CLINVAR
MedGen C0238286 CLINVAR
  C0950123 CLINVAR
NCBI Gene MCOLN1 CLINVAR
OMIM 252650 CLINVAR
  605248 CLINVAR
SNOMED CT 111384001 CLINVAR