rs1029839205 Rat Genome Database

rs1029839205 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs1029839205 - Homo sapiens

RGD ID:

15101652

RS ID:

rs1029839205

ClinVar ID:

CV763510

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC6A1 SLC6A1-AS1

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	3	11,059,644
GRCh38	3	11,017,958

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_003042.4:c.354G>A NG_053003.1:g.30230G>A NC_000003.12:g.11017958G>A NC_000003.11:g.11059644G>A More...	11/27/2023	5 prime utr variant	likely benign	Generalized myoclonic-atonic seizure

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV763510	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
CV763510	Human	myoclonic-atonic epilepsy		IAGP		8554872	ClinVar Annotator: match by term: Myoclonic-atonic epilepsy	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV763510	Human	Generalized myoclonic-atonic seizure		IAGP		8554872	ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure	ClinVar	PMID:28492532

Gene Symbol:	SLC6A1
Accession:	NM_001348251
Location:	5UTRS;EXON

Gene Symbol:	SLC6A1
Accession:	NM_001348252
Location:	5UTRS;INTRON

Gene Symbol:	SLC6A1
Accession:	NM_001348253
Location:	5UTRS;INTRON

Gene Symbol:	SLC6A1
Accession:	XM_017007071
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	XM_011534027
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	NM_003042
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	XM_005265411
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	XM_017007072
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1
Accession:	NM_001348250
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGG AFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLP WKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDS IIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLK GSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*

Gene Symbol:	SLC6A1-AS1
Accession:	NR_046647
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002336955	CLINVAR
	RCV005056693	CLINVAR
dbSNP (RS)	rs1029839205	CLINVAR
MedGen	C0393702	CLINVAR
	C0950123	CLINVAR
NCBI Gene	SLC6A1	CLINVAR
	SLC6A1-AS1	CLINVAR
OMIM	137165	CLINVAR
	616421	CLINVAR