RGD:15191230 Rat Genome Database

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Variant: RGD:15191230 -  Homo sapiens

RGD ID: 15191230
RS ID: rs144333168
ClinVar ID: CV720759
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCLT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 129,864,289
GRCh38 4 128,943,134
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144643.4:c.1494A>G
NG_034202.1:g.155474A>G
NC_000004.12:g.128943134T>C
NC_000004.11:g.129864289T>C
More... 		03/01/2023 synonymous variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SCLT1
Accession:XM_017007718
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 502
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGELNGQLKYYQKQ
VGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDR
LHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCN
ELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEE
LSALQMECAEKQGQIERVIKEKKAVEEELEKPFLQIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQ
LETDSSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKE
RGFEVQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSSFGKDLLVVNSQLLLIKYIYFLFIL
ERYFCWVWNSKLTGVFF*

Gene Symbol:SCLT1
Accession:XM_017007717
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 502
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGELNGQLKYYQKQ
VGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDR
LHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCN
ELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEE
LSALQMECAEKQGQIERVIKEKKAVEEELEKPFLQIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQ
LETDSSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKE
RGFEVQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSELSRQKLHTQELLSQLEMANEKVAE
NEKLILEHQEKANRLQRRLSQAEERAASASQQTIKAYLRLEHII*

Gene Symbol:SCLT1
Accession:XM_047449593
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 502
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGELNGQLKYYQKQ
VGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDR
LHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCN
ELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEE
LSALQMECAEKQGQIERVIKEKKAVEEELEKPFLQIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQ
LETDSSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKEPGAPTPCCFSP
SCKRV*

Gene Symbol:SCLT1
Accession:XM_017007716
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 502
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGELNGQLKYYQKQ
VGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDR
LHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCN
ELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEE
LSALQMECAEKQGQIERVIKEKKAVEEELEKPFLQIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQ
LETDSSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKE
RGFEVQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSELSRQKLHTQELLSQLEMANEKVAE
NEKLILEHQEKANRLQRRLSQAEERAASASQQLSVITVQRRKAASLMNLENI*

Gene Symbol:SCLT1
Accession:XM_047449590
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 498
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGELNGQLKYYQKQ
VGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDR
LHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCN
ELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEE
LSALQMECAEKQGQIERVIKEKKAVEEELEKIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQLETD
SSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKERGFE
VQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSELSRQKLHTQELLSQLEMANEKVAENEKL
ILEHQEKANRLQRRLSQAEERAASASQQTIKAYLRLEHII*

Gene Symbol:SCLT1
Accession:XM_047449592
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 498
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGELNGQLKYYQKQ
VGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDR
LHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCN
ELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEE
LSALQMECAEKQGQIERVIKEKKAVEEELEKIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQLETD
SSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKERGFE
VQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSSFGKDLLVVNSQLLLIKYIYFLFILERYF
CWVWNSKLTGVFF*

Gene Symbol:SCLT1
Accession:NM_144643
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 498
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGELNGQLKYYQKQ
VGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDR
LHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCN
ELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEE
LSALQMECAEKQGQIERVIKEKKAVEEELEKIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQLETD
SSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKERGFE
VQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSELSRQKLHTQELLSQLEMANEKVAENEKL
ILEHQEKANRLQRRLSQAEERAASASQQLSVITVQRRKAASLMNLENI*

Gene Symbol:SCLT1
Accession:XM_017007719
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDRLHK
LYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVAKVE
ELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCNELE
NERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEELSA
LQMECAEKQGQIERVIKEKKAVEEELEKPFLQIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQLET
DSSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKERGF
EVQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSELSRQKLHTQELLSQLEMANEKVAENEK
LILEHQEKANRLQRRLSQAEERAASASQQLSVITVQRRKAASLMNLENI*

Gene Symbol:SCLT1
Accession:NM_001300898
Location:INTRON

Gene Symbol:SCLT1
Accession:XM_047449597
Location:INTRON

Gene Symbol:SCLT1
Accession:XM_047449596
Location:INTRON

Gene Symbol:SCLT1
Accession:NM_001300897
Location:INTRON

Gene Symbol:SCLT1
Accession:NM_001410807
Location:INTRON

Gene Symbol:SCLT1
Accession:XM_047449594
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000888321 CLINVAR
dbSNP (RS) rs144333168 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCLT1 CLINVAR
OMIM 611399 CLINVAR