RGD:15170480 Rat Genome Database

Variant: RGD:15170480 - Homo sapiens

RGD ID:

15170480

RS ID:

rs117821416

ClinVar ID:

CV728926

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127894793 SLC37A1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	43,985,958
GRCh38	21	42,565,848

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001320537.2:c.1243A>T NM_018964.4:c.1243A>T NG_033931.1:g.71217A>T NC_000021.9:g.42565848A>T More...	07/20/2018	missense variant	benign	none provided

Variant Details

Variant Transcripts

Gene Symbol:	SLC37A1
Accession:	XM_047440843
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLPCFQGSSWFFVGLHQTALPSSDSPAHRSPGLRLSMQAPLLLQGGHPREGAVGR EPPAQALRARSSWCPRRGPPCACSSNRWAHLCFGAVPDPPHTQGAELPRVSYGGPSSI*

Gene Symbol:	SLC37A1
Accession:	XM_017028380
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLFLIRLIHKELSCPGSATGDQVPFKEQ*

Gene Symbol:	SLC37A1
Accession:	NM_018964
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLFLIRLIHKELSCPGSATGDQVPFKEQ*

Gene Symbol:	SLC37A1
Accession:	XM_047440846
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLEILKLNFPTTYKIKYRLSTYELTRFKWLFFGSSVGSFNA*

Gene Symbol:	SLC37A1
Accession:	XM_011529614
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	446

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRPPQTPSTTAFGGLQAAEHGEVPGGWSPGEGTAAPSSLPHTSPCASLHLYRAFIFILTFLLYASFHLSRKPISIVKGEL HKYCTAWDEADVRFSSQNRKSGSAAPHQLPDNETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYY LTFGMLASGAFTALFGLGYFYNIHSFGFYVVTQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSL IAGYWVSTCWGLSFVVPGAIVAAMGIVCFLFLIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQC LLLSDGKGSIHPNHVVILPGDGGSGTAAISFTGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELS TLFDVGGIFGGILAGVISDRLEKRASTCGLMLLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLG THKSLKGNAHALSTVTAIIDGTGSVGAALGPLLAGLLSPSGWSNVFYMLMFADACALLEILKLNFPTTYKIKYRLSTYEL TRFKWLFFGSSVGSFNA*

Gene Symbol:	SLC37A1
Accession:	XM_017028381
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLI*

Gene Symbol:	SLC37A1
Accession:	XM_011529615
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	446

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRPPQTPSTTAFGGLQAAEHGEVPGGWSPGEGTAAPSSLPHTSPCASLHLYRAFIFILTFLLYASFHLSRKPISIVKGEL HKYCTAWDEADVRFSSQNRKSGSAAPHQLPDNETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYY LTFGMLASGAFTALFGLGYFYNIHSFGFYVVTQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSL IAGYWVSTCWGLSFVVPGAIVAAMGIVCFLFLIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQC LLLSDGKGSIHPNHVVILPGDGGSGTAAISFTGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELS TLFDVGGIFGGILAGVISDRLEKRASTCGLMLLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLG THKSLKGNAHALSTVTAIIDGTGSVGAALGPLLAGLLSPSGWSNVFYMLMFADACALLFLIRLIHKELSCPGSATGDQVP FKEQ*

Gene Symbol:	SLC37A1
Accession:	XM_047440842
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLPCFQGSSWFFVGLHQTALPSSDSPAHRSPGLRLSMQAPLLLQGGHPREGAVGR EPPAQALRARSSWCPRRGPPCACSSNRWAHLCFGAVPDPPHTQGAELPRVSYGGPSSI*

Gene Symbol:	SLC37A1
Accession:	XM_017028376
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	446

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRPPQTPSTTAFGGLQAAEHGEVPGGWSPGEGTAAPSSLPHTSPCASLHLYRAFIFILTFLLYASFHLSRKPISIVKGEL HKYCTAWDEADVRFSSQNRKSGSAAPHQLPDNETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYY LTFGMLASGAFTALFGLGYFYNIHSFGFYVVTQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSL IAGYWVSTCWGLSFVVPGAIVAAMGIVCFLFLIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQC LLLSDGKGSIHPNHVVILPGDGGSGTAAISFTGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELS TLFDVGGIFGGILAGVISDRLEKRASTCGLMLLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLG THKSLKGNAHALSTVTAIIDGTGSVGAALGPLLAGLLSPSGWSNVFYMLMFADACALLI*

Gene Symbol:	SLC37A1
Accession:	XM_047440850
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLI*

Gene Symbol:	SLC37A1
Accession:	XM_047440849
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLFLIRLIHKELSCPGSATGDQVPFKEQ*

Gene Symbol:	SLC37A1
Accession:	NM_001320537
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLFLIRLIHKELSCPGSATGDQVPFKEQ*

Gene Symbol:	SLC37A1
Accession:	XM_047440844
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLPCFQGSSWFFVGLHQTALPSSDSPAHRSPGLRLSMQAPLLLQGGHPREGAVGR EPPAQALRARSSWCPRRGPPCACSSNRWAHLCFGAVPDPPHTQGAELPRVSYGGPSSI*

Gene Symbol:	SLC37A1
Accession:	XM_017028377
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLFLIRLIHKELSCPGSATGDQVPFKEQ*

Gene Symbol:	SLC37A1
Accession:	XM_017028379
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLFLIRLIHKELSCPGSATGDQVPFKEQ*

Gene Symbol:	SLC37A1
Accession:	XM_017028383
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLEILKLNFPTTYKIKYRLSTYELTRFKWLFFGSSVGSFNA*

Gene Symbol:	SLC37A1
Accession:	XM_047440845
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLPCFQGSSWFFVGLHQTALPSSDSPAHRSPGLRLSMQAPLLLQGGHPREGAVGR EPPAQALRARSSWCPRRGPPCACSSNRWAHLCFGAVPDPPHTQGAELPRVSYGGPSSI*

Gene Symbol:	SLC37A1
Accession:	XM_047440847
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLEILKLNFPTTYKIKYRLSTYELTRFKWLFFGSSVGSFNA*

Gene Symbol:	SLC37A1
Accession:	XM_047440848
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	415

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARLPAGIRFIISFSRDQWYRAFIFILTFLLYASFHLSRKPISIVKGELHKYCTAWDEADVRFSSQNRKSGSAAPHQLPD NETDCGWAPFDKNNYQQLLGALDYSFLCAYAVGMYLSGIIGERLPIRYYLTFGMLASGAFTALFGLGYFYNIHSFGFYVV TQVINGLVQTTGWPSVVTCLGNWFGKGRRGLIMGVWNSHTSVGNILGSLIAGYWVSTCWGLSFVVPGAIVAAMGIVCFLF LIEHPNDVRCSSTLVTHSKGYENGTNRLRLQKQILKSEKNKPLDPEMQCLLLSDGKGSIHPNHVVILPGDGGSGTAAISF TGALKIPGVIEFSLCLLFAKLVSYTFLFWLPLYITNVDHLDAKKAGELSTLFDVGGIFGGILAGVISDRLEKRASTCGLM LLLAAPTLYIFSTVCKMGLEATIAMLLLSGALVSGPYTLITTAVSADLGTHKSLKGNAHALSTVTAIIDGTGSVGAALGP LLAGLLSPSGWSNVFYMLMFADACALLEILKLNFPTTYKIKYRLSTYELTRFKWLFFGSSVGSFNA*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000883478	CLINVAR
dbSNP (RS)	rs117821416	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	SLC37A1	CLINVAR
OMIM	608094	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message

Variant: RGD:15170480 - Homo sapiens