RGD:15121487 Rat Genome Database

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Variant: RGD:15121487 -  Homo sapiens

RGD ID: 15121487
RS ID: rs78544936
ClinVar ID: CV717653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF75D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 134,425,410
GRCh38 X 135,291,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001185063.2:c.412-349G>A
NM_007131.5:c.684G>A
NG_021412.2:g.57604G>A
NC_000023.11:g.135291484C>T
More... 		11/18/2017 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ZNF75D
Accession:NM_007131
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMRELNADSCSSPQMGAMWETSGSVKENSSQSKKYSTKIENLGPESACRHFWSFRYHEATGPLETISQLQKLCHQWLRP
EIHSKEQILEMLVLEQFLSILPKETQNWVQKHHPQNVKQALVLVEFLQREPDGTKNEVTAHELGKEAVLLGGTAVAPGFK
WKPAEPQPMGVFQKEYWNTYRVLQEQLGWNTHKETQPVYERAVHDQQMLALSEQKRIKHWKMASKLILPESLSLLTFEDV
AVYFSEEEWQLLNPLEKTLYNDVMQDIYETVISLGLKLKNDTGNDHPISVSTSEIQTSGCEVSKKTRMKIAQKTMGRENP
GDTHSVQKWHRAFPRKKRKKPATCKQELPKLMDLHGKGPTGEKPFKCQECGKSFRVSSDLIKHHRIHTGEKPYKCQQCDR
RFRWSSDLNKHFMTHQGIKPYRCSWCGKSFSHNTNLHTHQRIHTGEKPFKCDECGKRFIQNSHLIKHQRTHTGEQPYTCS
LCKRNFSRRSSLLRHQKLHRRREACLVSPN*

Gene Symbol:ZNF75D
Accession:XM_047442485
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMRELNADSCSSPQMGAMWETSGSVKENSSQSKKYSTKIENLGPESACRHFWSFRYHEATGPLETISQLQKLCHQWLRP
EIHSKEQILEMLVLEQFLSILPKETQNWVQKHHPQNVKQALVLVEFLQREPDGTKNEVTAHELGKEAVLLGGTAVAPGFK
WKPAEPQPMGVFQKEYWNTYRVLQEQLGWNTHKETQPVYERAVHDQQMLALSEQKRIKHWKMASKLILPESLSLLTFEDV
AVYFSEEEWQLLNPLEKTLYNDVMQDIYETVISLGLKLKNDTGNDHPISVSTSEIQTSGCEVSKKTRMKIAQKTMGRENP
GDTHSVQKWHRAFPRKKRKKPATCKQELPKLMDLHGKGPTGEKPFKCQECGKSFRVSSDLIKHHRIHTGEKPYKCQQCDR
RFRWSSDLNKHFMTHQGIKPYRCSWCGKSFSHNTNLHTHQRIHTGEKPFKCDECGKRFIQNSHLIKHQRTHTGEQPYTCS
LCKRNFSRRSSLLRHQKLHRRREACLVSPN*

Gene Symbol:ZNF75D
Accession:XM_005262471
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLALSEQKRIKHWKMASKLILPESLSLLTFEDVAVYFSEEEWQLLNPLEKTLYNDVMQDIYETVISLGLKLKNDTGNDHP
ISVSTSEIQTSGCEVSKKTRMKIAQKTMGRENPGDTHSVQKWHRAFPRKKRKKPATCKQELPKLMDLHGKGPTGEKPFKC
QECGKSFRVSSDLIKHHRIHTGEKPYKCQQCDRRFRWSSDLNKHFMTHQGIKPYRCSWCGKSFSHNTNLHTHQRIHTGEK
PFKCDECGKRFIQNSHLIKHQRTHTGEQPYTCSLCKRNFSRRSSLLRHQKLHRRREACLVSPN*

Gene Symbol:ZNF75D
Accession:NM_001185063
Location:INTRON

Gene Symbol:ZNF75D
Accession:XM_047442486
Location:INTRON

Gene Symbol:ZNF75D
Accession:XM_011531397
Location:INTRON

Gene Symbol:ZNF75D
Accession:XM_047442487
Location:INTRON

Gene Symbol:ZNF75D
Accession:NR_110381
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000962903 CLINVAR
dbSNP (RS) rs78544936 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ZNF75D CLINVAR
OMIM 314997 CLINVAR