RGD:8625883 Rat Genome Database

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Variant: RGD:8625883 -  Homo sapiens

RGD ID: 8625883
ClinVar ID: CV81007
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NREP  STARD4-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 111,066,649
GRCh38 5 111,730,952
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001135951.1:p.Ser59Phe
NP_001135952.1:p.Ser59Phe
NP_001135953.1:p.Ser59Phe
NP_001135954.1:p.Ser59Phe
More...
missense|missense variant|intron|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:NREP
Accession:NM_001142474
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGVWNYSALSRREDETRTQRSRMTDRVPCSKCFQVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNA
ASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142475
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGVWNYSALSRREDETRTQRSRMTDRVPCSKCFQVHCQISVLNCVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEV
NRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142482
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142481
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142476
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142477
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142478
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_004772
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142479
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142480
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:NREP
Accession:NM_001142483
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRYPRISYLHFF*

Gene Symbol:STARD4-AS1
Accession:NR_040093
Location:INTRON;NON-CODING

Variant Samples