RGD:15122846 Rat Genome Database

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Variant: RGD:15122846 -  Homo sapiens

RGD ID: 15122846
RS ID: rs765315001
ClinVar ID: CV709305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAT8L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 2,061,343
GRCh38 4 2,059,616
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_178557.4:c.105C>T
NG_027961.1:g.5105C>T
NC_000004.12:g.2059616C>T
NC_000004.11:g.2061343C>T
More... 		02/14/2019 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NAT8L
Accession:NM_178557
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHCGPPDMVCETKIVAAEDHEALPGAKKDALLAAAGAMWPPLPAAPGPAAAPPAPPPAPVAQPHGGAGGAGPPGGRGVCI
REFRAAEQEAARRIFYDGIMERIPNTAFRGLRQHPRAQLLYALLAALCFAVSRSLLLTCLVPAALLGLRYYYSRKVIRAY
LECALHTDMADIEQYYMKPPGSCFWVAVLDGNVVGIVAARAHEEDNTVELLRMSVDSRFRGKGIAKALGRKVLEFAVVHN
YSAVVLGTTAVKVAAHKLYESLGFRHMGASDHYVLPGMTLSLAERLFFQVRYHRYRLQLREE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000963139 CLINVAR
dbSNP (RS) rs765315001 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NAT8L CLINVAR
OMIM 610647 CLINVAR