RGD:15133018 Rat Genome Database

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Variant: RGD:15133018 -  Homo sapiens

RGD ID: 15133018
RS ID: rs10186677
ClinVar ID: CV707785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPP2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 158,977,928
GRCh38 2 158,121,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001128570.1:p.Ala211=
NM_001135098.2:c.633A>C
NP_775491.1:p.Ala154=
NM_173355.4:c.462A>C
More... 		01/25/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UPP2
Accession:NM_001135098
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAPGCELDPDQEVVRTRPEDVPASPSTSTMIVSVLRPPSHASCTACGTVTFHIVERMASVIPASNRSMRSDRNTYVGKR
FVHVKNPYLDLMDEDILYHLDLGTKTHNLPAMFGDVKFVCVGGSPNRMKAFALFMHKELGFEEAEEDIKDICAGTDRYCM
YKTGPVLAISHGMGIPSISIMLHELIKLLHHARCCDVTIIRIGTSGGIGIAPGTVVITDIAVDSFFKPRFEQVILDNIVT
RSTELDKELSEELFNCSKEIPNFPTLVGHTMCTYDFYEGQGRLDGALCSFSREKKLDYLKRAFKAGVRNIEMESTVFAAM
CGLCGLKAAVVCVTLLDRLDCDQINLPHDVLVEYQQRPQLLISNFIRRRLGLCD*

Gene Symbol:UPP2
Accession:XM_017003484
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASVIPASNRSMRSDRNTYVGKRFVHVKNPYLDLMDEDILYHLDLGTKTHNLPAMFGDVKFVCVGGSPNRMKAFALFMHK
ELGFEEAEEDIKDICAGTDRYCMYKTGPVLAISHGMGIPSISIMLHELIKLLHHARCCDVTIIRIGTSGGIGIAPGTVVI
TDIAVDSFFKPRFEQVILDNIVTRSTELDKELSEELFNCSKEIPNFPTLVGHTMCTYDFYEAPIPGPFPSHWSNLRFSSK
GSSHSNPPLPDFPGHSAGCCSHSTVTDPRTEVLGHEGSFLRMRLLS*

Gene Symbol:UPP2
Accession:NM_173355
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASVIPASNRSMRSDRNTYVGKRFVHVKNPYLDLMDEDILYHLDLGTKTHNLPAMFGDVKFVCVGGSPNRMKAFALFMHK
ELGFEEAEEDIKDICAGTDRYCMYKTGPVLAISHGMGIPSISIMLHELIKLLHHARCCDVTIIRIGTSGGIGIAPGTVVI
TDIAVDSFFKPRFEQVILDNIVTRSTELDKELSEELFNCSKEIPNFPTLVGHTMCTYDFYEGQGRLDGALCSFSREKKLD
YLKRAFKAGVRNIEMESTVFAAMCGLCGLKAAVVCVTLLDRLDCDQINLPHDVLVEYQQRPQLLISNFIRRRLGLCD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000964877 CLINVAR
dbSNP (RS) rs10186677 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UPP2 CLINVAR
OMIM 617340 CLINVAR