RGD:13484046 Rat Genome Database

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Variant: RGD:13484046 -  Homo sapiens

RGD ID: 13484046
RS ID: rs1390104426
ClinVar ID: CV476508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,258,434
GRCh38 11 67,490,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_003968.3:p.Lys321Asn
NG_008969.1:g.12930A>T
NC_000011.10:g.67490963A>T
NP_001289888.1:p.Lys262Asn
More...
06/21/2017 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:AIP
Accession:NM_001302960
Location:3UTRS;EXON

Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
NARFRGIFSH*

Gene Symbol:AIP
Accession:NM_001302959
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLD
ALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPG
SPEWIQLDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALA
PVVSRELRALEARIRQKDEEDNARFRGIFSH*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000567508 CLINVAR
dbSNP (RS) rs1390104426 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 605555 CLINVAR
SNOMED CT 699346009 CLINVAR