RGD:15161010 Rat Genome Database

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Variant: RGD:15161010 -  Homo sapiens

RGD ID: 15161010
RS ID: rs114717666
ClinVar ID: CV702781
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZBTB42  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 105,268,758
GRCh38 14 104,802,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001137601.3:c.1224C>T
NM_001370342.1:c.1224C>T
NG_042073.1:g.6241C>T
NC_000014.9:g.104802421C>T
More... 		02/12/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ZBTB42
Accession:NM_001137601
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFPEHGGRLLGRLRQQRELGFLCDCTVLVGDARFPAHRAVLAACSVYFHLFYRDRPAGSRDTVRLNGDIVTAPAFGRLL
DFMYEGRLDLRSLPVEDVLAAASYLHMYDIVKVCKGRLQEKDRSLDPGNPAPGAEPAQPPCPWPVWTADLCPAARKAKLP
PFGVKAALPPRASGPPPCQVPEESDQALDLSLKSGPRQERVHPPCVLQTPLCSQRQPGAQPLVKDERDSLSEQEESSSSR
SPHSPPKPPPVPAAKGLVVGLQPLPLSGEGSRELELGAGRLASEDELGPGGPLCICPLCSKLFPSSHVLQLHLSAHFRER
DSTRARLSPDGVAPTCPLCGKTFSCTYTLKRHERTHSGEKPYTCVQCGKSFQYSHNLSRHTVVHTREKPHACRWCERRFT
QSGDLYRHVRKFHCGLVKSLLV*

Gene Symbol:ZBTB42
Accession:NM_001370342
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFPEHGGRLLGRLRQQRELGFLCDCTVLVGDARFPAHRAVLAACSVYFHLFYRDRPAGSRDTVRLNGDIVTAPAFGRLL
DFMYEGRLDLRSLPVEDVLAAASYLHMYDIVKVCKGRLQEKDRSLDPGNPAPGAEPAQPPCPWPVWTADLCPAARKAKLP
PFGVKAALPPRASGPPPCQVPEESDQALDLSLKSGPRQERVHPPCVLQTPLCSQRQPGAQPLVKDERDSLSEQEESSSSR
SPHSPPKPPPVPAAKGLVVGLQPLPLSGEGSRELELGAGRLASEDELGPGGPLCICPLCSKLFPSSHVLQLHLSAHFRER
DSTRARLSPDGVAPTCPLCGKTFSCTYTLKRHERTHSGEKPYTCVQCGKSFQYSHNLSRHTVVHTREKPHACRWCERRFT
QSGDLYRHVRKFHCGLVKSLLV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000947594 CLINVAR
dbSNP (RS) rs114717666 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ZBTB42 CLINVAR
OMIM 613915 CLINVAR