RGD:15169111 Rat Genome Database

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Variant: RGD:15169111 -  Homo sapiens

RGD ID: 15169111
RS ID: rs185455119
ClinVar ID: CV704042
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MNT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 2,291,323
GRCh38 17 2,388,029
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020310.3:c.828G>A
NC_000017.11:g.2388029C>T
NC_000017.10:g.2291323C>T
NM_020310.2:c.828G>A
More... 		06/19/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MNT
Accession:XM_011523869
Location:5UTRS;EXON

Gene Symbol:MNT
Accession:XM_017024654
Location:5UTRS;EXON

Gene Symbol:MNT
Accession:XM_024450758
Location:5UTRS;EXON

Gene Symbol:MNT
Accession:NM_020310
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIETLLEAARFLEWQAQQQQRAREEQERLRLEQEREQEQKKANSLARLAHTLPVEEPRMEAPPLPLSPPAPPPAPPPPL
ATPAPLTVIPIPVVTNSPQPLPPPPPLPAAAQPLPLAPRQPALVGAPGLSIKEPAPLPSRPQVPTPAPLLPDSKATIPPN
GSPKPLQPLPTPVLTIAPHPGVQPQLAPQQPPPPTLGTLKLAPAEEVKSSEQKKRPGGIGTREVHNKLEKNRRAHLKECF
ETLKRNIPNVDDKKTSNLSVLRTALRYIQSLKRKEKEYEHEMERLAREKIATQQRLAELKHELSQWMDVLEIDRVLRQTG
QPEDDQASTSTASEGEDNIDEDMEEDRAGLGPPKLSHRPQPELLKSTLPPPSTTPAPLPPHPHPHPHSVALPPAHLPVQQ
QQPQQKTPLPAPPPPPAAPAQTLVPAPAHLVATAGGGSTVIAHTATTHASVIQTVNHVLQGPGGKHIAHIAPSAPSPAVQ
LAPATPPIGHITVHPATLNHVAHLGSQLPLYPQPVAVSHIAHTLSHQQVNGTAGLGPPATVMAKPAVGAQVVHHPQLVGQ
TVLNPVTMVTMPSFPVSTLKLA*

Gene Symbol:MNT
Accession:XM_047436092
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAPPLPLSPPAPPPAPPPPLATPAPLTVIPIPVVTNSPQPLPPPPPLPAAAQPLPLAPRQPALVGAPGLSIKEPAPLPS
RPQVPTPAPLLPDSKATIPPNGSPKPLQPLPTPVLTIAPHPGVQPQLAPQQPPPPTLGTLKLAPAEEVKSSEQKKRPGGI
GTREVHNKLEKNRRAHLKECFETLKRNIPNVDDKKTSNLSVLRTALRYIQSLKRKEKEYEHEMERLAREKIATQQRLAEL
KHELSQWMDVLEIDRVLRQTGQPEDDQASTSTASEGEDNIDEDMEEDRAGLGPPKLSHRPQPELLKSTLPPPSTTPAPLP
PHPHPHPHSVALPPAHLPVQQQQPQQKTPLPAPPPPPAAPAQTLVPAPAHLVATAGGGSTVIAHTATTHASVIQTVNHVL
QGPGGKHIAHIAPSAPSPAVQLAPATPPIGHITVHPATLNHVAHLGSQLPLYPQPVAVSHIAHTLSHQQVNGTAGLGPPA
TVMAKPAVGAQVVHHPQLVGQTVLNPVTMVTMPSFPVSTLKLA*

Gene Symbol:MNT
Accession:XM_011523868
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYVWAQGSGEDRAQGSERLSHLLPPSTRCSSKEQERLRLEQEREQEQKKANSLARLAHTLPVEEPRMEAPPLPLSPPAP
PPAPPPPLATPAPLTVIPIPVVTNSPQPLPPPPPLPAAAQPLPLAPRQPALVGAPGLSIKEPAPLPSRPQVPTPAPLLPD
SKATIPPNGSPKPLQPLPTPVLTIAPHPGVQPQLAPQQPPPPTLGTLKLAPAEEVKSSEQKKRPGGIGTREVHNKLEKNR
RAHLKECFETLKRNIPNVDDKKTSNLSVLRTALRYIQSLKRKEKEYEHEMERLAREKIATQQRLAELKHELSQWMDVLEI
DRVLRQTGQPEDDQASTSTASEGEDNIDEDMEEDRAGLGPPKLSHRPQPELLKSTLPPPSTTPAPLPPHPHPHPHSVALP
PAHLPVQQQQPQQKTPLPAPPPPPAAPAQTLVPAPAHLVATAGGGSTVIAHTATTHASVIQTVNHVLQGPGGKHIAHIAP
SAPSPAVQLAPATPPIGHITVHPATLNHVAHLGSQLPLYPQPVAVSHIAHTLSHQQVNGTAGLGPPATVMAKPAVGAQVV
HHPQLVGQTVLNPVTMVTMPSFPVSTLKLA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000949395 CLINVAR
dbSNP (RS) rs185455119 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MNT CLINVAR
OMIM 603039 CLINVAR