RGD:13786480 Rat Genome Database

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Variant: RGD:13786480 -  Homo sapiens

RGD ID: 13786480
RS ID: rs1474838395
ClinVar ID: CV546169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 118,896,006
GRCh38 11 119,025,296
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164278.2:c.1084T>G
LRG_187t1:c.1018T>G
LRG_187:g.10610T>G
NG_013331.1:g.10610T>G
More... 		02/22/2018 missense variant uncertain significance Glycogen storage disease type 1B; GSD Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164280
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 340

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*LPQALDPGIGSCIWCLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164279
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 267

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*LPQALDPGIGSCIWCLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQL
EHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 340

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*LPQALDPGIGSCIWCLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 362

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*ALDPGIGSCIWCLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRL
SGWAALQHHCQALQLEHSLLGG*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V

Gene Symbol:SLC37A4
Accession:NM_001467
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 340

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*LPQALDPGIGSCIWCLLVWPHCPVWSHSQRECPSQLVWHLPRHCGTHGQCGRLSGWAALQHHCQALQLEHSLLGG
*SDLCGQHGCLLPPTKHPHQDGPSVQEG*V
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000672845 CLINVAR
dbSNP (RS) rs1474838395 CLINVAR
MedGen C0268146 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR