RGD:14711581 Rat Genome Database

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Variant: RGD:14711581 -  Homo sapiens

RGD ID: 14711581
RS ID: rs11575845
ClinVar ID: CV634804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPIG6B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 31,692,386
GRCh38 6 31,724,609
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138272.2:c.523C>T
LRG_1003:g.6266C>T
NP_612116.1:p.Arg175Ter
NC_000006.12:g.31724609C>T
More... 		12/27/2018 intron variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:MPIG6B
Accession:NM_138277
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALG
LVWWLHRRLPPQPI*PLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTGKGMGMGRG*

Gene Symbol:MPIG6B
Accession:NM_025260
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALG
LVWWLHRRLPPQPI*PLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTEPALCGSGPSSPQQAPPAVHSGPC*

Gene Symbol:MPIG6B
Accession:NM_138272
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALG
LVWWLHRRLPPQPI*PLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVV
V*

Gene Symbol:MPIG6B
Accession:NM_138273
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPF
VGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGACPRNRFDHSLDLLCPPHIAPLV
KTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVVV*

Gene Symbol:MPIG6B
Accession:XM_017011333
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERVDTEGGTPSFLLQLIQGLGRQDLVTQGPRVEEPASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGRRPIL
WASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGACPRNRF
DHSLDLLHL*

Gene Symbol:MPIG6B
Accession:NM_138274
Location:INTRON

Gene Symbol:MPIG6B
Accession:NM_138275
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23112346   PMID:27743390   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000818265 CLINVAR
dbSNP (RS) rs11575845 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MPIG6B CLINVAR
OMIM 606520 CLINVAR