RGD:11637052 Rat Genome Database

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Variant: RGD:11637052 -  Homo sapiens

RGD ID: 11637052
RS ID: rs886044113
ClinVar ID: CV273431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPV17  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 27,534,767
GRCh38 2 27,311,899
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008075.1:g.15665G>C
NC_000002.12:g.27311899C>G
NC_000002.11:g.27534767C>G
NP_002428.1:p.Arg154Thr
More... 		07/10/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MPV17
Accession:NM_002437
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYTLAVVQC
VAVIWNSYLSWKAHRL*

Gene Symbol:MPV17
Accession:XM_017004151
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLKSHKRSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGF
APCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYTLAVVQCVAVIWNSYLSWKAHRL
*

Gene Symbol:MPV17
Accession:XM_005264326
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGT
TKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYTLAVVQC
VAVIWNSYLSWKAHRL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278294 CLINVAR
dbSNP (RS) rs886044113 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MPV17 CLINVAR
OMIM 137960 CLINVAR