RGD:15101843 Rat Genome Database

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Variant: RGD:15101843 -  Homo sapiens

RGD ID: 15101843
RS ID: rs140722529
ClinVar ID: CV754718
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARNT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 80,867,333
GRCh38 15 80,574,992
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014862.3:c.1395C>T
NP_055677.3:p.Pro465=
NM_014862.4:c.1395C>T
NC_000015.10:g.80574992C>T
More... 		12/01/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ARNT2
Accession:NM_014862
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 465
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPAAVNPPEMASDIPGSVTLPVAPMAATGQVRMAGAMPARGGKRRSGMDFDDEDGEGPSKFSRENHSEIERRRRNKMT
QYITELSDMVPTCSALARKPDKLTILRMAVSHMKSMRGTGNKSTDGAYKPSFLTEQELKHLILEAADGFLFVVAAETGRV
IYVSDSVTPVLNQPQSEWFGSTLYEQVHPDDVEKLREQLCTSENSMTGRILDLKTGTVKKEGQQSSMRMCMGSRRSFICR
MRCGNAPLDHLPLNRITTMRKRFRNGLGPVKEGEAQYAVVHCTGYIKAWPPAGMTIPEEDADVGQGSKYCLVAIGRLQVT
SSPVCMDMNGMSVPTEFLSRHNSDGIITFVDPRCISVIGYQPQDLLGKDILEFCHPEDQSHLRESFQQVVKLKGQVLSVM
YRFRTKNREWMLIRTSSFTFQNPYSDEIEYIICTNTNVKQLQQQQAELEVHQRDGLSSYDLSQVPVPNLPAGVHEAGKSV
EKADAIFSQERDPRFAEMFAGISASEKKMMSSASAAGTQQIYSQGSPFPSGHSGKAFSSSVVHVPGVNDIQSSSSTGQNM
SQISRQLNQSQVAWTGSRPPFPGQQIPSQSSKTQSSPFGIGTSHTYPADPSSYSPLSSPATSSPSGNAYSSLANRTPGFA
ESGQSSGQFQGRPSEVWSQWQSQHHGQQSGEQHSHQQPGQTEVFQDMLPMPGDPTQGTGNYNIEDFADLGMFPPFSE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000914861 CLINVAR
dbSNP (RS) rs140722529 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARNT2 CLINVAR
OMIM 606036 CLINVAR