RGD:11663098 Rat Genome Database

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Variant: RGD:11663098 -  Homo sapiens

RGD ID: 11663098
RS ID: rs886055163
ClinVar ID: CV283027
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGPS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 178,257,625
GRCh38 2 177,392,897
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.5155G>A
NC_000002.12:g.177392897G>A
NC_000002.11:g.178257625G>A
NP_003650.1:p.Arg36=
More... 		06/14/2016 synonymous variant uncertain significance Alkyldihydroxyacetonephosphate synthase deficiency; Alkylglycerone Phosphate Synthase (AGPS) deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AGPS
Accession:NM_003659
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 36
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: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQES
GTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVV
NEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTS
VSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASG
MKKNIYGNIEDLELLV*

Gene Symbol:AGPS
Accession:XM_047446104
Location:INTRON

Gene Symbol:AGPS
Accession:XM_011512041
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000392211 CLINVAR
dbSNP (RS) rs886055163 CLINVAR
MedGen C1838612 CLINVAR
NCBI Gene AGPS CLINVAR
  LOC129935172 CLINVAR
OMIM 600121 CLINVAR
  603051 CLINVAR