RGD:156288230 Rat Genome Database

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Variant: RGD:156288230 -  Homo sapiens

RGD ID: 156288230
ClinVar ID: CV1997986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGPS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 178,257,748
GRCh38 2 177,393,020
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003659.4:c.231G>T
NG_008968.1:g.5278G>T
NC_000002.12:g.177393020G>T
NC_000002.11:g.178257748G>T
More... 		04/24/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AGPS
Accession:NM_003659
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 77
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: A to A (synonymous)
Amino Acid Position: 77
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 RCV002647091 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AGPS CLINVAR
OMIM 603051 CLINVAR