RGD:8660923 Rat Genome Database

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Variant: RGD:8660923 -  Homo sapiens

RGD ID: 8660923
RS ID: rs1042327
ClinVar ID: CV136007
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 170,878,793
GRCh38 6 170,569,705
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008165.1:g.20323T>C
NC_000006.12:g.170569705T>C
NC_000006.11:g.170878793T>C
NP_003185.1:p.Asn257=
More...
06/09/2021 synonymous variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:TBP
Accession:NM_003194
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQNNSLPPYAQGLASPQGAMTPGIPIFSPMMPYGTGLTPQPIQNTNSLSILEEQQRQQQQQQQQQQQQQQQQQQQQQQQ
QQQQQQQQQQQQQQQAVAAAAVQQSTSQQATQGTSGQAPQLFHSQTLTTAPLPGTTPLYPSPMTPMTPITPATPASESSG
IVPQLQNIVSTVNLGCKLDLKTIALRARNAEYNPKRFAAVIMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARV
VQKLGFPAKFLDFKIQNMVGSCDVKFPIRLEGLVLTHQQFSSYEPELFPGLIYRMIKPRIVLLIFVSGKVVLTGAKVRAE
IYEAFENIYPILKGFRKTT*

Gene Symbol:TBP
Accession:NM_001172085
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPGIPIFSPMMPYGTGLTPQPIQNTNSLSILEEQQRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQAVAAA
AVQQSTSQQATQGTSGQAPQLFHSQTLTTAPLPGTTPLYPSPMTPMTPITPATPASESSGIVPQLQNIVSTVNLGCKLDL
KTIALRARNAEYNPKRFAAVIMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARVVQKLGFPAKFLDFKIQNMVG
SCDVKFPIRLEGLVLTHQQFSSYEPELFPGLIYRMIKPRIVLLIFVSGKVVLTGAKVRAEIYEAFENIYPILKGFRKTT*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000118601 CLINVAR
  RCV001689662 CLINVAR
dbSNP (RS) rs1042327 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TBP CLINVAR
OMIM 600075 CLINVAR