RGD:15127893 Rat Genome Database

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Variant: RGD:15127893 -  Homo sapiens

RGD ID: 15127893
RS ID: rs782713974
ClinVar ID: CV768247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,899,114
GRCh38 11 119,028,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001157749.1:p.Ser57=
NC_000011.10:g.119028404C>T
NM_001467.6:c.171G>A
NM_001164279.2:c.-49G>A
More... 		07/29/2020 5 prime utr variant likely benign Glycogen storage disease type 1B; GSD Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164279
Location:5UTRS;EXON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 57

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: S to S (synonymous)
Amino Acid Position: 57

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_001164280
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 57

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: S to S (synonymous)
Amino Acid Position: 57

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
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000941622 CLINVAR
dbSNP (RS) rs782713974 CLINVAR
MedGen C0268146 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR