RGD:12840150 Rat Genome Database

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Variant: RGD:12840150 -  Homo sapiens

RGD ID: 12840150
RS ID: rs751864113
ClinVar ID: CV373927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTLC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 78,063,556
GRCh38 14 77,597,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_371t1:c.300C>T
LRG_371:g.24555C>T
NG_028282.1:g.24555C>T
NC_000014.9:g.77597213G>A
More... 		06/21/2018 synonymous variant likely benign AllHighlyPenetrant; 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: H to H (synonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGV
LTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSF
KYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFA
TNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSM
EGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIG
AFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEET
ED*

Gene Symbol:SPTLC2
Accession:XM_011537384
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGV
LTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSF
KYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFA
TNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSM
EGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGNGITIHEVVQTRNTYHRFSPLSPVFSHQCLWIMLP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000430139 CLINVAR
  RCV001448800 CLINVAR
  RCV002436354 CLINVAR
dbSNP (RS) rs751864113 CLINVAR
MedGen C0950123 CLINVAR
  C3150896 CLINVAR
  CN169374 CLINVAR
NCBI Gene SPTLC2 CLINVAR
OMIM 605713 CLINVAR
  613640 CLINVAR