RGD:152083108 Rat Genome Database

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Variant: RGD:152083108 -  Homo sapiens

RGD ID: 152083108
RS ID: rs771230948
ClinVar ID: CV1525274
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGPS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 178,257,700
GRCh38 2 177,392,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008968.1:g.5230G>T
NC_000002.11:g.178257700G>T
NM_003659.4:c.183G>T
NC_000002.12:g.177392972G>T
More... 		03/10/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AGPS
Accession:NM_003659
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQES
GTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVV
NEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTS
VSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASG
MKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQ
GVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQH
EKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFA
PFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGVGKLRKQWLKESISDVGFGMLK
SVKEYVDPNNIFGNRNLL*

Gene Symbol:AGPS
Accession:XM_047446105
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQES
GTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVV
NEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTS
VSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASG
MKKNIYGNIEDLELLV*

Gene Symbol:AGPS
Accession:XM_011512041
Location:INTRON

Gene Symbol:AGPS
Accession:XM_047446104
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002131078 CLINVAR
dbSNP (RS) rs771230948 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AGPS CLINVAR
  LOC129935172 CLINVAR
OMIM 603051 CLINVAR