RGD:8643459 Rat Genome Database

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Variant: RGD:8643459 -  Homo sapiens

RGD ID: 8643459
RS ID: rs483352935
ClinVar ID: CV102442
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZCCHC12  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 117,960,295
GRCh38 X 118,826,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.118826332A>G
NC_000023.10:g.117960295A>G
NM_001312891.2:c.1088A>G
NM_173798.4:c.1088A>G
More... 		04/03/2013 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ZCCHC12
Accession:NM_173798
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASIIARVGNSRRLNAPLPPWAHSMLRSLGRSLGPIMASMADRNMKLFSGRVVPAQGEETFENWLTQVNGVLPDWNMSEE
EKLKRLMKTLRGPAREVMRVLQATNPNLSVADFLRAMKLVFGESESSVTAHGKFFNTLQAQGEKASLYVIRLEVQLQNAI
QAGIIAEKDANRTRLQQLLLGGELSRDLRLRLKDFLRMYANEQERLPNFLELIRMVREEEDWDDAFIKRKRPKRSESMVE
RAVSPVAFQGSPPIVIGSADCNVIEIDDTLDDSDEDVILVESQDPPLPSWGAPPLRDRARPQDEVLVIDSPHNSRAQFPS
TSGGSGYKNNGPGEMRRARKRKHTIRCSYCGEEGHSKETCDNGSDKAQVFENLIITLQELTHTEMERSRVAPGEYNDFSE
PL*

Gene Symbol:ZCCHC12
Accession:NM_001312891
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASIIARVGNSRRLNAPLPPWAHSMLRSLGRSLGPIMASMADRNMKLFSGRVVPAQGEETFENWLTQVNGVLPDWNMSEE
EKLKRLMKTLRGPAREVMRVLQATNPNLSVADFLRAMKLVFGESESSVTAHGKFFNTLQAQGEKASLYVIRLEVQLQNAI
QAGIIAEKDANRTRLQQLLLGGELSRDLRLRLKDFLRMYANEQERLPNFLELIRMVREEEDWDDAFIKRKRPKRSESMVE
RAVSPVAFQGSPPIVIGSADCNVIEIDDTLDDSDEDVILVESQDPPLPSWGAPPLRDRARPQDEVLVIDSPHNSRAQFPS
TSGGSGYKNNGPGEMRRARKRKHTIRCSYCGEEGHSKETCDNGSDKAQVFENLIITLQELTHTEMERSRVAPGEYNDFSE
PL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000082703 CLINVAR
dbSNP (RS) rs483352935 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ZCCHC12 CLINVAR
OMIM 300701 CLINVAR