rs909827415 Rat Genome Database

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Variant: rs909827415 -  Homo sapiens

RGD ID: 26919548
RS ID: rs909827415
ClinVar ID: CV830609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RETREG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 16,475,023
GRCh38 5 16,474,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001034850.2:c.1321C>T
LRG_363t1:c.1321C>T
LRG_363:g.147096C>T
NG_016644.2:g.147096C>T
More... 		07/21/2020 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RETREG1
Accession:NM_001034850
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 441
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEAAGRAAAAVTWLLGEPVLWLG
CRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSESWEVINSK
PDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCNDIGQ
KIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDDSELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFN
LSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPL
NSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAASIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEA
QQNKKSSGFLSNLLGGH*

Gene Symbol:RETREG1
Accession:NM_019000
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEGEDFGPGKSWEVINSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSY
LLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDDSELDFSALCPKISLTVAAKEL
SVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTNDEDELSLGLPTELKRKKEQLD
SGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAASIPEEDTDTEEGDDFELLDQS
ELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH*

Gene Symbol:RETREG1
Accession:XM_011514053
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 481
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEAAGRAAAAVTWLLGEPVLWLG
CRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSERALWRSQC
QPAAVPGARVMSGPCCHGAHSPGVETDPKVKKNWEVINSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLV
CSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDD
SELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTN
DEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAA
SIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH*

Gene Symbol:RETREG1
Accession:XM_011514055
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTHIHAVTSPQLRSLQAEVSWEVINSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSY
IPGVILSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDDSELDFSALCPKIS
LTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTNDEDELSLGLPTEL
KRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAASIPEEDTDTEEGD
DFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH*

Gene Symbol:RETREG1
Accession:XM_011514054
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEGEDFGPGKRALWRSQCQPAAVPGARVMSGPCCHGAHSPGVETDPKVKKNWEVINSKPDERPRLSHCIAESWMNFSIF
LQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYI
NQKKRERSEADKEKSHKDDSELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEE
VFSRDLSDFPSLENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAAV
TAAIKDQLEGVQQALSQAASIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001045784 CLINVAR
  RCV002462278 CLINVAR
dbSNP (RS) rs909827415 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene RETREG1 CLINVAR
OMIM 613114 CLINVAR