RGD:15117334 Rat Genome Database

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Variant: RGD:15117334 -  Homo sapiens

RGD ID: 15117334
RS ID: rs1340216590
ClinVar ID: CV780652
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLRAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 25,870,216
GRCh38 1 25,543,725
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015627.3:c.27G>A
NG_008932.1:g.5141G>A
NC_000001.11:g.25543725G>A
NC_000001.10:g.25870216G>A
More... 		04/11/2023 synonymous variant likely benign Hypercholesterolemia, autosomal recessive; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDLRAP1
Accession:XM_011541211
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWLDDGLDEAFSRWRFTSCSER*

Gene Symbol:LDLRAP1
Accession:XM_011541210
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWLDDGLDEAFSRGRELTGEETPSSVVQSC*

Gene Symbol:LDLRAP1
Accession:XM_006710560
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRWRFTSCSER*

Gene Symbol:LDLRAP1
Accession:XM_006710561
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRDPD*

Gene Symbol:LDLRAP1
Accession:XM_011541212
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWLDDGLDEAFSRDPD*

Gene Symbol:LDLRAP1
Accession:XM_011541209
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWLDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF*

Gene Symbol:LDLRAP1
Accession:XM_006710559
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRGRELTGEETPSSVVQSC*

Gene Symbol:LDLRAP1
Accession:NM_015627
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF*

Gene Symbol:LDLRAP1
Accession:XM_017000995
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMRS*

Gene Symbol:LDLRAP1
Accession:XM_047417473
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRAPEGLSVPRQQCQQRLRRFEEWDRQSWMKPDYAEGEMETPGGAGTC*

Gene Symbol:LDLRAP1
Accession:XR_946603
Location:EXON;NON-CODING

Gene Symbol:LDLRAP1
Accession:XM_024446315
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_047417497
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_017000994
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_047417482
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XR_007058621
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000978746 CLINVAR
  RCV001273186 CLINVAR
  RCV002434344 CLINVAR
dbSNP (RS) rs1340216590 CLINVAR
MedGen C0020445 CLINVAR
  C1863512 CLINVAR
  CN230736 CLINVAR
NCBI Gene LDLRAP1 CLINVAR
  LOC129929773 CLINVAR
OMIM 603813 CLINVAR
  605747 CLINVAR
SNOMED CT 398036000 CLINVAR