RGD:405295139 Rat Genome Database

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Variant: RGD:405295139 -  Homo sapiens

RGD ID: 405295139
ClinVar ID: CV3211082
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127885052  SLC7A5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 87,868,141
GRCh38 16 87,834,535
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003486.7:c.1347C>G
NG_080448.1:g.33G>C
NG_139695.1:g.605G>C
NC_000016.10:g.87834535G>C
More... 		12/23/2019 synonymous variant benign SLC7A5-related condition

Variant Details
Variant Transcripts
Gene Symbol:SLC7A5
Accession:NM_003486
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 449
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAGPKRRALAAPAAEEKEEAREKMLAAKSADGSAPAGEGEGVTLQRNITLLNGVAIIVGTIIGSGIFVTPTGVLKEAG
SPGLALVVWAACGVFSIVGALCYAELGTTISKSGGDYAYMLEVYGSLPAFLKLWIELLIIRPSSQYIVALVFATYLLKPL
FPTCPVPEEAAKLVACLCVLLLTAVNCYSVKAATRVQDAFAAAKLLALALIILLGFVQIGKGDVSNLDPNFSFEGTKLDV
GNIVLALYSGLFAYGGWNYLNFVTEEMINPYRNLPLAIIISLPIVTLVYVLTNLAYFTTLSTEQMLSSEAVAVDFGNYHL
GVMSWIIPVFVGLSCFGSVNGSLFTSSRLFFVGSREGHLPSILSMIHPQLLTPVPSLVFTCVMTLLYAFSKDIFSVINFF
SFFNWLCVALAIIGMIWLRHRKPELERPIKVNLALPVFFILACLFLIAVSFWKTPVECGIGFTIILSGLPVYFFGVWWKN
KPKWLLQGIFSTTVLCQKLMQVVPQET*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003937079 CLINVAR
NCBI Gene SLC7A5 CLINVAR
OMIM 600182 CLINVAR