RGD:152045787 Rat Genome Database

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Variant: RGD:152045787 -  Homo sapiens

RGD ID: 152045787
RS ID: rs183787750
ClinVar ID: CV1670335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APPL1  ASB14  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 57,302,458
GRCh38 3 57,268,430
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142733.3:c.*1211T>C
NM_130387.5:c.*1211T>C
NM_012096.3:c.1926A>G
NG_047003.1:g.45694A>G
More... 		02/26/2021 3 prime utr variant likely benign MODY 14; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ASB14
Accession:NM_001142733
Location:3UTRS;EXON

Gene Symbol:ASB14
Accession:NM_130387
Location:3UTRS;EXON

Gene Symbol:APPL1
Accession:NM_012096
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 642
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAMHRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDE
VMSSTLQQFSKVIDELSSCHAVLSTQLADAMMFPITQFKERDLKEILTLKEVFQIASNDHDAAINRYSRLSKKRENDKVK
YEVTEDVYTSRKKQHQTMMHYFCALNTLQYKKKIALLEPLLGYMQAQISFFKMGSENLNEQLEEFLANIGTSVQNVRREM
DSDIETMQQTIEDLEVASDPLYVPDPDPTKFPVNRNLTRKAGYLNARNKTGLVSSTWDRQFYFTQGGNLMSQARGDVAGG
LAMDIDNCSVMAVDCEDRRYCFQITSFDGKKSSILQAESKKDHEEWICTINNISKQIYLSENPEETAARVNQSALEAVTP
SPSFQQRHESLRPAAGQSRPPTARTSSSGSLGSESTNLAALSLDSLVAPDTPIQFDIISPVCEDQPGQAKAFGQGGRRTN
PFGESGGSTKSETEDSILHQLFIVRFLGSMEVKSDDHPDVVYETMRQILAARAIHNIFRMTESHLLVTCDCLKLIDPQTQ
VTRLTFPLPCVVLYATHQENKRLFGFVLRTSSGRSESNLSSVCYIFESNNEGEKICDSVGLAKQIALHAELDRRASEKQK
EMERVKEKQQKELNKQKQIEKDLEEQSRLIAASSRPNQASSEGQFVVLSSSQSEESDLGEGGKKRESEA*

Gene Symbol:APPL1
Accession:XM_011533583
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 625
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRSLLGVFEEDATAISNYMNQLYQAMHRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDELS
SCHAVLSTQLADAMMFPITQFKERDLKEILTLKEVFQIASNDHDAAINRYSRLSKKRENDKVKYEVTEDVYTSRKKQHQT
MMHYFCALNTLQYKKKIALLEPLLGYMQAQISFFKMGSENLNEQLEEFLANIGTSVQNVRREMDSDIETMQQTIEDLEVA
SDPLYVPDPDPTKFPVNRNLTRKAGYLNARNKTGLVSSTWDRQFYFTQGGNLMSQARGDVAGGLAMDIDNCSVMAVDCED
RRYCFQITSFDGKKSSILQAESKKDHEEWICTINNISKQIYLSENPEETAARVNQSALEAVTPSPSFQQRHESLRPAAGQ
SRPPTARTSSSGSLGSESTNLAALSLDSLVAPDTPIQFDIISPVCEDQPGQAKAFGQGGRRTNPFGESGGSTKSETEDSI
LHQLFIVRFLGSMEVKSDDHPDVVYETMRQILAARAIHNIFRMTESHLLVTCDCLKLIDPQTQVTRLTFPLPCVVLYATH
QENKRLFGFVLRTSSGRSESNLSSVCYIFESNNEGEKICDSVGLAKQIALHAELDRRASEKQKEMERVKEKQQKELNKQK
QIEKDLEEQSRLIAASSRPNQASSEGQFVVLSSSQSEESDLGEGGKKRESEA*

Gene Symbol:ASB14
Accession:XM_017005736
Location:INTRON

Gene Symbol:ASB14
Accession:XM_017005737
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002225187 CLINVAR
  RCV003101285 CLINVAR
dbSNP (RS) rs183787750 CLINVAR
MedGen C3661900 CLINVAR
  C4225299 CLINVAR
NCBI Gene APPL1 CLINVAR
  ASB14 CLINVAR
OMIM 604299 CLINVAR
  616511 CLINVAR