rs775522201 Rat Genome Database

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Variant: rs775522201 -  Homo sapiens

RGD ID: 12845677
RS ID: rs775522201
ClinVar ID: CV363178
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 128,750,639
GRCh38 8 127,738,393
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.127738393C>T
NC_000008.10:g.128750639C>T
NP_002458.2:p.Ala59Val
LRG_1397p1:p.Ala59Val
More... 		07/14/2015 missense variant likely pathogenic Neoplasm (disease); Neoplasms
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Neoplasm  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MYC
Accession:NM_002467
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSELQPPVPSEDIWKKFELLPTPPLSPSR
RSGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLV
SEKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLS
STESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTH
QHNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELE
NNEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*

Gene Symbol:MYC
Accession:NM_001354870
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LDFFRVVENQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSELQPPVPSEDIWKKFELLPTPPLSPSRR
SGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPDDETFIKNIIIQDCMWSGFSAAAKLVS
EKLASYQAARKDSGSPNPARGHSVCSTSSLYLQDLSAAASECIDPSVVFPYPLNDSSSPKSCASQDSSAFSPSSDSLLSS
TESSPQGSPEPLVLHEETPPTTSSDSEEEQEDEEEIDVVSVEKRQAPGKRSESGSPSAGGHSKPPHSPLVLKRCHVSTHQ
HNYAAPPSTRKDYPAAKRVKLDSVRVLRQISNNRKCTSPRSSDTEENVKRRTHNVLERQRRNELKRSFFALRDQIPELEN
NEKAPKVVILKKATAYILSVQAEEQKLISEEDLLRKRREQLKHKLEQLRNSCA*
Variant Samples