RGD:156156541 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:156156541 -  Homo sapiens

RGD ID: 156156541
ClinVar ID: CV2378554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZBTB8A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 33,065,908
GRCh38 1 32,600,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001291496.2:c.*10A>G
NM_001040441.3:c.1214A>G
NC_000001.11:g.32600307A>G
NC_000001.10:g.33065908A>G
More...
01/31/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Gene Symbol:ZBTB8A
Accession:NM_001291496
Location:3UTRS;EXON

Gene Symbol:ZBTB8A
Accession:NM_001040441
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFASSGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVIL
DFVYSGKLSLTGQNVIEVMSAASFLQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSS
SPRSHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVTHYKSSKREVRTSDSSSHV
SQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMRFKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFS
RLDHLSSHFRTIHQACKLICRKCKRHVTDLTGQVVQEGTRRYRLCNECLAEFGIDSLPIDLEAEQHLMSPSDGDKDSRWH
LSEDGNRSYVEIVEDGSADLVIQQVDDSEEEEEKEIKPNIR*

Gene Symbol:ZBTB8A
Accession:NR_111980
Location:EXON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV004228991 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZBTB8A CLINVAR
OMIM 618742 CLINVAR