RGD:15181920 Rat Genome Database

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Variant: RGD:15181920 -  Homo sapiens

RGD ID: 15181920
RS ID: rs7654853
ClinVar ID: CV709278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105377596  MTNR1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 187,455,261
GRCh38 4 186,534,107
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005958.4:c.635T>C
NC_000004.12:g.186534107A>G
NC_000004.11:g.187455261A>G
NP_005949.1:p.Ile212Thr
More... 		05/05/2021 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MTNR1A
Accession:NM_005958
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQGNGSALPNASQPVLRGDGARPSWLASALACVLIFTIVVDILGNLLVILSVYRNKKLRNAGNIFVVSLAVADLVVAIYP
YPLVLMSIFNNGWNLGYLHCQVSGFLMGLSVIGSIFNITGIAINRYCYICHSLKYDKLYSSKNSLCYVLLIWLLTLAAVL
PNLRAGTLQYDPRIYSCTFAQSVSSAYTIAVVVFHFLVPMIIVIFCYLRIWTLVLQVRQRVKPDRKPKLKPQDFRNFVTM
FVVFVLFAICWAPLNFIGLAVASDPASMVPRIPEWLFVASYYMAYFNSCLNAIIYGLLNQNFRKEYRRIIVSLCTARVFF
VDSSNDVADRVKWKPSPLMTNNNVVKVDSV*

Gene Symbol:MTNR1A
Accession:XM_011532002
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIFNNGWNLGYLHCQVSGFLMGLSVIGSIFNITGIAINRYCYICHSLKYDKLYSSKNSLCYVLLIWLLTLAAVLPNLRA
GTLQYDPRIYSCTFAQSVSSAYTIAVVVFHFLVPMIIVIFCYLRIWTLVLQVRQRVKPDRKPKLKPQDFRNFVTMFVVFV
LFAICWAPLNFIGLAVASDPASMVPRIPEWLFVASYYMAYFNSCLNAIIYGLLNQNFRKEYRRIIVSLCTARVFFVDSSN
DVADRVKWKPSPLMTNNNVVKVDSV*

Gene Symbol:LOC105377596
Accession:XR_007058498
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000974508 CLINVAR
dbSNP (RS) rs7654853 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MTNR1A CLINVAR
OMIM 600665 CLINVAR