RGD:13494603 Rat Genome Database

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Variant: RGD:13494603 -  Homo sapiens

RGD ID: 13494603
RS ID: rs777827146
ClinVar ID: CV448053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDLRAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 25,893,462
GRCh38 1 25,566,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015627.2:c.906G>A
LRG_276t1:c.906G>A
LRG_276:g.28387G>A
NG_008932.1:g.28387G>A
More... 		07/18/2017 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_047417497
Location:3UTRS;EXON

Gene Symbol:LDLRAP1
Accession:XM_017000994
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQL
IENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKEKRDKASQ
EGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQALSGSSVVWELDDGLDEAFSRLAQSRT
NPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF*

Gene Symbol:LDLRAP1
Accession:XM_024446315
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMH
DKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKS
LVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQ
CLSPVDWDKPDSSGTEQDDLFSF*

Gene Symbol:LDLRAP1
Accession:XM_011541209
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWLDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF*

Gene Symbol:LDLRAP1
Accession:NM_015627
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKA
SGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLT
VAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF*

Gene Symbol:LDLRAP1
Accession:XM_047417482
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQL
IENVSIYRISYCTADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKEKRDKASQ
EGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQALSGSSVVWLDDGLDEAFSRLAQSRTN
PQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGTEQDDLFSF*

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

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

Gene Symbol:LDLRAP1
Accession:XM_011541210
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_006710560
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_047417473
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_011541211
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_006710559
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_011541212
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_017000995
Location:INTRON

Gene Symbol:LDLRAP1
Accession:XM_006710561
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000536520 CLINVAR
dbSNP (RS) rs777827146 CLINVAR
MedGen C1863512 CLINVAR
NCBI Gene LDLRAP1 CLINVAR
OMIM 603813 CLINVAR
  605747 CLINVAR