rs1554653923 Rat Genome Database

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Variant: rs1554653923 -  Homo sapiens

RGD ID: 13499158
RS ID: rs1554653923
ClinVar ID: CV474914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,970,973
GRCh38 9 21,970,974
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000068.1:p.Tyr129Asp
NP_001350692.1:p.Tyr78Asp
NM_000077.4:c.385T>G
LRG_11:g.28518T>G
More... 		06/04/2017 3 prime utr variant|missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_058195
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_058197
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLRAAAGGTRGSNHARIDAAEGPSEMIGNHLW
VCRSRHA*

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLRAAAGGTRGSNHARIDAAEGPSVTASIQVP
GGEEGDFGSSYS*

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLRAAAGGTRGSNHARIDAAEGPSAGWTNLRI
SKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLRAAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARDLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*
Variant Samples
Additional References at PubMed
PMID:17495976  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000573593 CLINVAR
dbSNP (RS) rs1554653923 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR
SNOMED CT 699346009 CLINVAR