RGD:15142437 Rat Genome Database

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Variant: RGD:15142437 -  Homo sapiens

RGD ID: 15142437
RS ID: rs61572410
ClinVar ID: CV734963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC36A2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 150,696,583
GRCh38 5 151,317,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181776.3:c.1247C>A
NG_027745.1:g.35569C>A
NC_000005.10:g.151317022G>T
NC_000005.9:g.150696583G>T
More... 		05/24/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC36A2
Accession:NM_181776
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVTKSTEGPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSESAGLKKTKGITVFQALIHLVKGNMGTGILGLPLAVK
NAGILMGPLSLLVMGFIACHCMHILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWGRHIVSFFLIITQLG
FCCVYIVFLADNLKQVVEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLIRNLRILTIFSMLANISMLVSLV
IIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSFESIGVVLPLENKMKNARHFPAILSLGMSIVTSLYIGMAALGYLR
FGDDIKASISLNLPNCWLYQSVKLLYIAGILCTYALQFYVPAEIIIPFAISRVSTRWALPLDLSIRLVMVCLTCLLAILI
PRLDLVISLVGSVSGNALALIIPPLLEVTTFYSEGMSPLTIFKDALISILGFVGFVVGTYQALDELLKSEDSHPFSNSTT
FVR*

Gene Symbol:SLC36A2
Accession:XM_005268377
Location:INTRON

Gene Symbol:SLC36A2
Accession:XM_017009083
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000899673 CLINVAR
dbSNP (RS) rs61572410 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC36A2 CLINVAR
OMIM 608331 CLINVAR