RGD:15106202 Rat Genome Database

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Variant: RGD:15106202 -  Homo sapiens

RGD ID: 15106202
RS ID: rs144018386
ClinVar ID: CV709664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD14  TMCO6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,012,131
GRCh38 5 140,632,546
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001174104.2:c.438C>T
NM_001174105.2:c.438C>T
NG_023178.1:g.6156C>T
NC_000005.10:g.140632546G>A
More... 		10/22/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TMCO6
Accession:XM_011537665
Location:5UTRS;INTRON

Gene Symbol:TMCO6
Accession:XM_047417356
Location:5UTRS;INTRON

Gene Symbol:TMCO6
Accession:XM_047417357
Location:5UTRS;INTRON

Gene Symbol:TMCO6
Accession:XM_047417355
Location:5UTRS;INTRON

Gene Symbol:TMCO6
Accession:XM_047417358
Location:5UTRS;INTRON

Gene Symbol:TMCO6
Accession:XM_024446125
Location:5UTRS;INTRON

Gene Symbol:CD14
Accession:NM_001174104
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERASCLLLLLLPLVHVSATTPEPCELDDEDFRCVCNFSEPQPDWSEAFQCVSAVEVEIHAGGLNLEPFLKRVDADADPR
QYADTVKALRVRRLTVGAAQVPAQLLVGALRVLAYSRLKELTLEDLKITGTMPPLPLEATGLALSRLRLRNVSWATGRSW
LAELQQWLKPGLKVLSIAQAHSPAFSCEQVRAFPALTSLDLSDNPGLGERGLMAALCPHKFPAIQNLALRNTGMETPTGV
CAALAAAGVQPHSLDLSHNSLRATVNPSAPRCMWSSALNSLNLSFAGLEQVPKGLPAKLRVLDLSCNRLNRAPQPDELPE
VDNLTLDGNPFLVPGTALPHEGSMNSGVVPACARSTLSVGVSGTLVLLQGARGFA*

Gene Symbol:CD14
Accession:NM_001174105
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERASCLLLLLLPLVHVSATTPEPCELDDEDFRCVCNFSEPQPDWSEAFQCVSAVEVEIHAGGLNLEPFLKRVDADADPR
QYADTVKALRVRRLTVGAAQVPAQLLVGALRVLAYSRLKELTLEDLKITGTMPPLPLEATGLALSRLRLRNVSWATGRSW
LAELQQWLKPGLKVLSIAQAHSPAFSCEQVRAFPALTSLDLSDNPGLGERGLMAALCPHKFPAIQNLALRNTGMETPTGV
CAALAAAGVQPHSLDLSHNSLRATVNPSAPRCMWSSALNSLNLSFAGLEQVPKGLPAKLRVLDLSCNRLNRAPQPDELPE
VDNLTLDGNPFLVPGTALPHEGSMNSGVVPACARSTLSVGVSGTLVLLQGARGFA*

Gene Symbol:CD14
Accession:NM_001040021
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERASCLLLLLLPLVHVSATTPEPCELDDEDFRCVCNFSEPQPDWSEAFQCVSAVEVEIHAGGLNLEPFLKRVDADADPR
QYADTVKALRVRRLTVGAAQVPAQLLVGALRVLAYSRLKELTLEDLKITGTMPPLPLEATGLALSRLRLRNVSWATGRSW
LAELQQWLKPGLKVLSIAQAHSPAFSCEQVRAFPALTSLDLSDNPGLGERGLMAALCPHKFPAIQNLALRNTGMETPTGV
CAALAAAGVQPHSLDLSHNSLRATVNPSAPRCMWSSALNSLNLSFAGLEQVPKGLPAKLRVLDLSCNRLNRAPQPDELPE
VDNLTLDGNPFLVPGTALPHEGSMNSGVVPACARSTLSVGVSGTLVLLQGARGFA*

Gene Symbol:CD14
Accession:NM_000591
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERASCLLLLLLPLVHVSATTPEPCELDDEDFRCVCNFSEPQPDWSEAFQCVSAVEVEIHAGGLNLEPFLKRVDADADPR
QYADTVKALRVRRLTVGAAQVPAQLLVGALRVLAYSRLKELTLEDLKITGTMPPLPLEATGLALSRLRLRNVSWATGRSW
LAELQQWLKPGLKVLSIAQAHSPAFSCEQVRAFPALTSLDLSDNPGLGERGLMAALCPHKFPAIQNLALRNTGMETPTGV
CAALAAAGVQPHSLDLSHNSLRATVNPSAPRCMWSSALNSLNLSFAGLEQVPKGLPAKLRVLDLSCNRLNRAPQPDELPE
VDNLTLDGNPFLVPGTALPHEGSMNSGVVPACARSTLSVGVSGTLVLLQGARGFA*

Gene Symbol:TMCO6
Accession:XM_047417353
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_018502
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_005268477
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_047417354
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_017009618
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_011537663
Location:INTRON

Gene Symbol:TMCO6
Accession:XM_024446124
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300980
Location:INTRON

Gene Symbol:TMCO6
Accession:NM_001300982
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000960030 CLINVAR
dbSNP (RS) rs144018386 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CD14 CLINVAR
  TMCO6 CLINVAR
OMIM 158120 CLINVAR