RGD:15110935 Rat Genome Database

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Variant: RGD:15110935 -  Homo sapiens

RGD ID: 15110935
RS ID: rs1601151318
ClinVar ID: CV757734
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP298  CFAP298-TCP10L  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 33,975,600
GRCh38 21 32,603,290
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350335.2:c.537A>G
NM_001350337.2:c.537A>G
NM_001350338.2:c.537A>G
NM_021254.4:c.537A>G
More... 		04/16/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CFAP298
Accession:NM_001350335
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWG
EKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQVSTFCFNVSVVFVISLQT
DKNVQ*

Gene Symbol:CFAP298
Accession:NM_001350336
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWG
EKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRLEENDDDAYLNSPWADN
TALKRHFHGVKDIKWRPR*

Gene Symbol:CFAP298
Accession:NM_021254
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWG
EKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQK
QLMLYYHRRQEELKRLEENDDDAYLNSPWADNTALKRHFHGVKDIKWRPR*

Gene Symbol:CFAP298
Accession:NM_001350337
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWG
EKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQK
QLMLYYHRRQEELKVAGDRWAFCSAGAHT*

Gene Symbol:CFAP298-TCP10L
Accession:NM_001350338
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKLKDEWG
EKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPP
YDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQPLQQQIIRLHQELGRQKS
LWADVHGKLRSHIDALREQNMELREKLRALQLQRWKARKKSAASPHAGQESHTLALEPAFGKISPLSADEETIPKYAGHK
NQSATLLGQRSSSNNSAPPKPMSLKIERISSWKTPPQENRDKNLSRRRQDRRATPTGRPTPCAERRGGV*

Gene Symbol:CFAP298
Accession:NM_001350334
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGVKNAYPAEVQCLKRMILDEGMGKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPPYDPIRMEFENKEDLSGTQA
GLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQKQLMLYYHRRQEELKRLEEN
DDDAYLNSPWADNTALKRHFHGVKDIKWRPR*

Gene Symbol:CFAP298-TCP10L
Accession:NR_146638
Location:EXON;NON-CODING

Gene Symbol:CFAP298-TCP10L
Accession:NR_146639
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000916634 CLINVAR
dbSNP (RS) rs1601151318 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CFAP298 CLINVAR
  CFAP298-TCP10L CLINVAR
OMIM 615494 CLINVAR