RGD:15164364 Rat Genome Database

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Variant: RGD:15164364 -  Homo sapiens

RGD ID: 15164364
RS ID: rs17802414
ClinVar ID: CV709748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC36A1  SLC36A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 150,726,875
GRCh38 5 151,347,314
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.147G>A
NG_027745.1:g.5277G>A
NC_000005.10:g.151347314C>T
NM_181776.2:c.147G>A
More... 		05/05/2021 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC36A1
Accession:XM_011537591
Location:5UTRS;INTRON

Gene Symbol:SLC36A2
Accession:NM_181776
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVTKSTEGPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSESAGLKKTKGITVFQALIHLVKGNMGTGILGLPLAVK
NAGILMGPLSLLVMGFIACHCMHILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWGRHIVSFFLIITQLG
FCCVYIVFLADNLKQVVEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLIRNLRILTIFSMLANISMLVSLV
IIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSFESIGVVLPLENKMKNARHFPAILSLGMSIVTSLYIGMAALGYLR
FGDDIKASISLNLPNCWLYQSVKLLYIAGILCTYALQFYVPAEIIIPFAISRVSTRWALPLDLSIRLVMVCLTCLLAILI
PRLDLVISLVGSVSGTALALIIPPLLEVTTFYSEGMSPLTIFKDALISILGFVGFVVGTYQALDELLKSEDSHPFSNSTT
FVR*

Gene Symbol:SLC36A2
Accession:XM_017009083
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVTKSTEGPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSESAGLKKTKGITVFQALIHLVKGNMGTGILGLPLAVK
NAGILMGPLSLLVMGFIACHCMHILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWGRHIVSFFLIITQLG
FCCVYIVFLADNLKQVVEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLIRNLRILTIFSMLANISMLVSLV
IIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSFESIGVSVHCLGSTTAYQRTCQRTFGLFLVFDNHE*

Gene Symbol:SLC36A2
Accession:XM_005268377
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVTKSTEGPQGAVAIKLDLMSPPESAKKLENKDSTFLDESPSESAGLKKTKGITVFQALIHLVKGNMGTGILGLPLAVK
NAGILMGPLSLLVMGFIACHCMHILVKCAQRFCKRLNKPFMDYGDTVMHGLEANPNAWLQNHAHWGRHIVSFFLIITQLG
FCCVYIVFLADNLKQVVEAVNSTTNNCYSNETVILTPTMDSRLYMLSFLPFLVLLVLIRNLRILTIFSMLANISMLVSLV
IIIQYITQEIPDPSRLPLVASWKTYPLFFGTAIFSFESIGVVLPLENKMKNARHFPAILSLGMSIVTSLYIGMAALGYLR
FGDDIKASISLNLPNCWLYQSVKLLYIAGILCTYALQFYVPAEIIIPFAISRVSTRWALPLDLSIRLVMVCLT*

Gene Symbol:SLC36A1
Accession:XM_047416928
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_006714759
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537586
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_047416924
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_047416925
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_047416929
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537592
Location:INTRON

Gene Symbol:SLC36A1
Accession:NM_001308150
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537584
Location:INTRON

Gene Symbol:SLC36A1
Accession:NM_001308151
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_047416923
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537580
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_047416921
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537581
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537587
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_017009217
Location:INTRON

Gene Symbol:SLC36A1
Accession:NM_078483
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537596
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_047416920
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537585
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537589
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_047416927
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537595
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_017009216
Location:INTRON

Gene Symbol:SLC36A1
Accession:XM_011537590
Location:INTRON

Gene Symbol:SLC36A1
Accession:NM_001349740
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000970702 CLINVAR
dbSNP (RS) rs17802414 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC36A1 CLINVAR
  SLC36A2 CLINVAR
OMIM 606561 CLINVAR
  608331 CLINVAR