RGD:9589299 Rat Genome Database

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Variant: RGD:9589299 -  Homo sapiens

RGD ID: 9589299
RS ID: rs121908742
ClinVar ID: CV166122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX8  PAX8-AS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 114,004,357
GRCh38 2 113,246,780
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012384.1:g.37142T>G
NC_000002.12:g.113246780A>C
NC_000002.11:g.114004357A>C
NP_039247.1:p.His55Gln
More... 		intron variant|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PAX8
Accession:NM_013952
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAAPPFWICSKSAPGSRPSMPFP
MLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAWWQEVNTLAMPMATPPTPPTARPGASPTPAC*

Gene Symbol:PAX8
Accession:NM_013953
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAWWQEVNTLAMPMATPPTPPTARPGASPTPA
C*

Gene Symbol:PAX8
Accession:NM_003466
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSST
PSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEY
SGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL*

Gene Symbol:PAX8
Accession:NM_013992
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQEVNTLAMPMATPPTPPTARPGASPTPAC*

Gene Symbol:PAX8-AS1
Accession:NR_015377
Location:INTRON;NON-CODING

Gene Symbol:PAX8-AS1
Accession:NR_047570
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:20718765  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144426 CLINVAR
dbSNP (RS) rs121908742 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PAX8 CLINVAR
  PAX8-AS1 CLINVAR
OMIM 167415 CLINVAR