RGD:38490074 Rat Genome Database

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Variant: RGD:38490074 -  Homo sapiens

RGD ID: 38490074
RS ID: rs775468865
ClinVar ID: CV927188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,984,439
GRCh38 14 77,518,096
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_371t1:c.1511T>C
NM_004863.4:c.1511T>C
LRG_371:g.103672T>C
NG_028282.1:g.103672T>C
More... 		07/18/2019 missense variant uncertain significance Hereditary sensory and autonomic neuropathy type IC; HSAN IC; HSN IC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPTLC2
Accession:NM_004863
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 504
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGV
LTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSF
KYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFA
TNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSM
EGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIG
AFGREMLKRNIGVVVVGFPATPITESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEET
ED*

Gene Symbol:SPTLC2
Accession:XM_011537384
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20920666   PMID:24175284   PMID:26681808   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001221988 CLINVAR
dbSNP (RS) rs775468865 CLINVAR
MedGen C3150896 CLINVAR
NCBI Gene SPTLC2 CLINVAR
OMIM 605713 CLINVAR
  613640 CLINVAR