RGD:8687763 Rat Genome Database

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Variant: RGD:8687763 -  Homo sapiens

RGD ID: 8687763
RS ID: rs587778388
ClinVar ID: CV138228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAS  GNAS-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,415,493
GRCh38 20 58,840,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021433.1:g.15466G>A
NC_000020.11:g.58840438C>T
NC_000020.10:g.57415493C>T
NP_057676.1:p.Thr111Ile
More... 		09/19/2013 2kb upstream variant|5 prime utr variant|missense variant not provided AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GNAS
Accession:NM_001410912
Location:5UTRS;EXON

Gene Symbol:GNAS
Accession:XM_017027815
Location:5UTRS;EXON

Gene Symbol:GNAS
Accession:XM_047440113
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:GNAS
Accession:NM_016592
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALATSNARAQQRAAAQQRRSFLNAHHRSGAQVFPESP
ESESDHEHEEADLELSLPECLEYEEEFDYEIESETESEIESETDFETEPETAPTTEPETEPEDDRGPVVPKHSTFGQSLT
QRLHALKLRSPDASPSRAPPSTQEPQSPREGEELKPEDKDPRDPEESKEPKEEKQRRRCKPKKPTRRDASPESPSKKGPI
PIRRH*

Gene Symbol:GNAS
Accession:NM_001309842
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027813
Location:INTRON

Gene Symbol:GNAS
Accession:XM_024451873
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309883
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440117
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440124
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027817
Location:INTRON

Gene Symbol:GNAS
Accession:NM_080425
Location:INTRON

Gene Symbol:GNAS
Accession:NM_080426
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440114
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440116
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440121
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001077489
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GNAS
Accession:XM_024451875
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027820
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440125
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001077490
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001077488
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027818
Location:INTRON

Gene Symbol:GNAS
Accession:NM_000516
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440115
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001410913
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027812
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440120
Location:INTRON

Gene Symbol:GNAS
Accession:XM_017027819
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440122
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440119
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309861
Location:INTRON

Gene Symbol:GNAS
Accession:NM_001309840
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440118
Location:INTRON

Gene Symbol:GNAS
Accession:XM_047440123
Location:INTRON

Gene Symbol:GNAS
Accession:NR_132272
Location:INTRON;NON-CODING

Gene Symbol:GNAS-AS1
Accession:NR_185848
Location:INTRON;NON-CODING

Gene Symbol:GNAS-AS1
Accession:NR_002785
Location:INTRON;NON-CODING

Gene Symbol:GNAS-AS1
Accession:NR_185847
Location:INTRON;NON-CODING

Gene Symbol:GNAS
Accession:NR_132273
Location:INTRON;NON-CODING

Gene Symbol:GNAS-AS1
Accession:NR_185849
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24728327  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121171 CLINVAR
dbSNP (RS) rs587778388 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GNAS CLINVAR
  GNAS-AS1 CLINVAR
OMIM 139320 CLINVAR
  610540 CLINVAR