RGD:13621378 Rat Genome Database

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Variant: RGD:13621378 -  Homo sapiens

RGD ID: 13621378
RS ID: rs150036058
ClinVar ID: CV528393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 78,045,365
GRCh38 14 77,579,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004863.4:c.415T>C
NM_004863.3:c.415T>C
NC_000014.9:g.77579022A>G
LRG_371t1:c.415T>C
More... 		10/12/2021 missense variant uncertain significance Hereditary sensory and autonomic neuropathy type IC; HSAN IC; HSN IC; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPTLC2
Accession:XM_011537384
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGV
LTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPIRSVPGARVDIMERQSHDYNWSF
KYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFA
TNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSM
EGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGNGITIHEVVQTRNTYHRFSPLSPVFSHQCLWIMLP*

Gene Symbol:SPTLC2
Accession:NM_004863
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGV
LTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPIRSVPGARVDIMERQSHDYNWSF
KYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFA
TNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSM
EGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIG
AFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEET
ED*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000648365 CLINVAR
  RCV001771887 CLINVAR
  RCV002331232 CLINVAR
dbSNP (RS) rs150036058 CLINVAR
MedGen C0950123 CLINVAR
  C3150896 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPTLC2 CLINVAR
OMIM 605713 CLINVAR
  613640 CLINVAR