RGD:15155701 Rat Genome Database

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Variant: RGD:15155701 -  Homo sapiens

RGD ID: 15155701
RS ID: rs142759801
ClinVar ID: CV722450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL6  IL6-AS1  LOC126859963  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 22,767,134
GRCh38 7 22,727,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318095.2:c.-19+234C>A
NM_001371096.1:c.22C>A
NM_000600.5:c.91C>A
NG_011640.1:g.5369C>A
More... 		06/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IL6
Accession:NM_001318095
Location:5UTRS;INTRON

Gene Symbol:IL6
Accession:NM_000600
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSFSTSAFGPVAFSLGLLLVLPAAFPAPVTPGEDSKDVAAPHRQPLTSSERIDKQIRYILDGISALRKETCNKSNMCES
SKEALAENNLNLPKMAEKDGCFQSGFNEETCLVKIITGLLEFEVYLEYLQNRFESSEEQARAVQMSTKVLIQFLQKKAKN
LDAITTPDPTTNASLLTKLQAQNQWLQDMTTHLILRSFKEFLQSSLRALRQM*

Gene Symbol:IL6
Accession:XM_005249745
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSFSTSKCRKSLALELPAAVEPCVREGCVAQGGLAGGQQQRQAPSCAVSSPLRSLPSGTGAFGPVAFSLGLLLVLPAAF
PAPVTPGEDSKDVAAPHRQPLTSSERIDKQIRYILDGISALRKETCNKSNMCESSKEALAENNLNLPKMAEKDGCFQSGF
NEETCLVKIITGLLEFEVYLEYLQNRFESSEEQARAVQMSTKVLIQFLQKKVGVSSFPQLGVGEDRLKDSVLDNSGMQCH
FQKRRLHVNKRV*

Gene Symbol:IL6
Accession:NM_001371096
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSFSTITPGEDSKDVAAPHRQPLTSSERIDKQIRYILDGISALRKETCNKSNMCESSKEALAENNLNLPKMAEKDGCFQ
SGFNEETCLVKIITGLLEFEVYLEYLQNRFESSEEQARAVQMSTKVLIQFLQKKAKNLDAITTPDPTTNASLLTKLQAQN
QWLQDMTTHLILRSFKEFLQSSLRALRQM*

Gene Symbol:IL6-AS1
Accession:NR_131935
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880472 CLINVAR
  RCV003930512 CLINVAR
dbSNP (RS) rs142759801 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL6 CLINVAR
  IL6-AS1 CLINVAR
  LOC126859963 CLINVAR
OMIM 147620 CLINVAR