rs773314283 Rat Genome Database

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Variant: rs773314283 -  Homo sapiens

RGD ID: 15132602
RS ID: rs773314283
ClinVar ID: CV749400
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129993734  RETREG1  RETREG1-AS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 16,617,063
GRCh38 5 16,616,954
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016644.2:g.5056T>A
NC_000005.10:g.16616954A>T
NC_000005.9:g.16617063A>T
NP_001030022.1:p.Pro6=
More... 		01/31/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RETREG1
Accession:XM_011514053
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEAAGRAAAAVTWLLGEPVLWLG
CRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSERALWRSQC
QPAAVPGARVMSGPCCHGAHSPGVETDPKVKKNWEVINSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLV
CSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDD
SELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTN
DEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAA
PIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH*

Gene Symbol:RETREG1
Accession:NM_001034850
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEAAGRAAAAVTWLLGEPVLWLG
CRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSESWEVINSK
PDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCNDIGQ
KIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDDSELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFN
LSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPL
NSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAAPIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEA
QQNKKSSGFLSNLLGGH*

Gene Symbol:RETREG1
Accession:XM_011514055
Location:INTRON

Gene Symbol:RETREG1
Accession:XM_011514054
Location:INTRON

Gene Symbol:RETREG1
Accession:NM_019000
Location:INTRON

Gene Symbol:RETREG1-AS1
Accession:NR_109946
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000920370 CLINVAR
dbSNP (RS) rs773314283 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 101929524 CLINVAR
  LOC129993734 CLINVAR
  RETREG1 CLINVAR
OMIM 613114 CLINVAR