RGD:8624072 Rat Genome Database

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Variant: RGD:8624072 -  Homo sapiens

RGD ID: 8624072
RS ID: rs193302901
ClinVar ID: CV79160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,895,906
GRCh38 11 119,025,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_187t1:c.1118C>A
LRG_187:g.10710C>A
NG_013331.1:g.10710C>A
NC_000011.10:g.119025196G>T
More... 		missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164279
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 300

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGP
ILATILAQSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWL
PCGVWSKDLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDS
VHVPLPGNSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQL
EHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001467
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 373

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 373

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 395

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQGCCFLDSGSSPSRGAHRLYRA*ALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRL
SGWAALQHHCQALQLEHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 373

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAYAISKFVSGVLSDQMSARWLF
SSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPPCGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILA
QSYSWRSTLALSGALWCGCLLPLSPAHPQ*TC*CWTPQPGPHAL*GQEGLLEGGEHPAGAAAVPLPVGALHWLPCGVWSK
DLLY*LGPVLPYPGERTVSPCR*LLHECPGSWGPCRQHRSWLPVRPGHGKGGTVQLREPSPWPVAVHDGWHDSVHVPLPG
NSDQ*LPQALDPGIGSCIWFLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V
Variant Samples
Additional References at PubMed
PMID:11949931  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000059119 CLINVAR
dbSNP (RS) rs193302901 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 602671 CLINVAR