RGD:13621377 Rat Genome Database

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Variant: RGD:13621377 -  Homo sapiens

RGD ID: 13621377
RS ID: rs1164824967
ClinVar ID: CV528403
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127828101  SPTLC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 78,082,879
GRCh38 14 77,616,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_371t1:c.44G>A
LRG_371:g.5232G>A
NG_028282.1:g.5232G>A
NC_000014.9:g.77616536C>T
More... 		10/31/2017 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:XM_011537384
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPEPGGCCCRRTVQANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGV
LTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSF
KYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFA
TNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSM
EGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGNGITIHEVVQTRNTYHRFSPLSPVFSHQCLWIMLP*

Gene Symbol:SPTLC2
Accession:NM_004863
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPEPGGCCCRRTVQANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTYVGYGV
LTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSF
KYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFA
TNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSM
EGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRT
HSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIG
AFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEET
ED*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000648363 CLINVAR
dbSNP (RS) rs1164824967 CLINVAR
MedGen C3150896 CLINVAR
NCBI Gene SPTLC2 CLINVAR
OMIM 605713 CLINVAR
  613640 CLINVAR