RGD:12740897 Rat Genome Database

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Variant: RGD:12740897 -  Homo sapiens

RGD ID: 12740897
RS ID: rs1057518570
ClinVar ID: CV360516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM255A  ZBTB33  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 119,387,307
GRCh38 X 120,253,452
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021334.1:g.7701C>G
NC_000023.11:g.120253452C>G
NC_000023.10:g.119387307C>G
NP_001171671.1:p.Gln13Glu
More... 		12/05/2016 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZBTB33
Accession:NM_006777
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESRKLISATDIEYSGSLLNSLNEQRGHGLFCDVTVIVEDRKFRAHKNILSASSTYFHQLFSVAGQVVELSFIRAEIFAE
ILNYIYSSKIVRVRSDLLDELIKSGQLLGVKFIAELGVPLSQVKSISGTAQDGNTEPLPPDSGDKNLVIQKSKDEAQDNG
ATIMPIITESFSLSAEDYEMKKIIVTDSDDDDDDVIFCSEILPTKETLPSNNTVAQVQSNPGPVAISDVAPSASNNSPPL
TNITPTQKLPTPVNQATLSQTQGSEKLLVSSAPTHLTPNIILLNQTPLSTPPNVSSSLPNHMPSSINLLVQNQQTPNSAI
LTGNKANEEEEEEIIDDDDDTISSSPDSAVSNTSLVPQADTSQNTSFDGSLIQKMQIPTLLQEPLSNSLKISDIITRNTN
DPGVGSKHLMEGQKIITLDTATEIEGLSTGCKVYANIGEDTYDIVIPVKDDPDEGEARLENEIPKTSGSEMANKRMKVKH
DDHYELIVDGRVYYICIVCKRSYVCLTSLRRHFNIHSWEKKYPCRYCEKVFPLAEYRTKHEIHHTGERRYQCLACGKSFI
NYQFMSSHIKSVHSQDPSGDSKLYRLHPCRSLQIRQYAYLSDRSSTIPAMKDDGIGYKVDTGKEPPVGTTTSTQNKPMTW
EDIFIQQENDSIFKQNVTDGSTEFEFIIPESY*

Gene Symbol:ZBTB33
Accession:NM_001184742
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESRKLISATDIEYSGSLLNSLNEQRGHGLFCDVTVIVEDRKFRAHKNILSASSTYFHQLFSVAGQVVELSFIRAEIFAE
ILNYIYSSKIVRVRSDLLDELIKSGQLLGVKFIAELGVPLSQVKSISGTAQDGNTEPLPPDSGDKNLVIQKSKDEAQDNG
ATIMPIITESFSLSAEDYEMKKIIVTDSDDDDDDVIFCSEILPTKETLPSNNTVAQVQSNPGPVAISDVAPSASNNSPPL
TNITPTQKLPTPVNQATLSQTQGSEKLLVSSAPTHLTPNIILLNQTPLSTPPNVSSSLPNHMPSSINLLVQNQQTPNSAI
LTGNKANEEEEEEIIDDDDDTISSSPDSAVSNTSLVPQADTSQNTSFDGSLIQKMQIPTLLQEPLSNSLKISDIITRNTN
DPGVGSKHLMEGQKIITLDTATEIEGLSTGCKVYANIGEDTYDIVIPVKDDPDEGEARLENEIPKTSGSEMANKRMKVKH
DDHYELIVDGRVYYICIVCKRSYVCLTSLRRHFNIHSWEKKYPCRYCEKVFPLAEYRTKHEIHHTGERRYQCLACGKSFI
NYQFMSSHIKSVHSQDPSGDSKLYRLHPCRSLQIRQYAYLSDRSSTIPAMKDDGIGYKVDTGKEPPVGTTTSTQNKPMTW
EDIFIQQENDSIFKQNVTDGSTEFEFIIPESY*

Gene Symbol:TMEM255A
Accession:NM_001104545
Location:INTRON

Gene Symbol:TMEM255A
Accession:NM_001104544
Location:INTRON

Gene Symbol:TMEM255A
Accession:NM_017938
Location:INTRON

Gene Symbol:TMEM255A
Accession:XM_017029619
Location:INTRON

Gene Symbol:TMEM255A
Accession:XM_047442232
Location:INTRON

Gene Symbol:TMEM255A
Accession:XM_047442231
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000413439 CLINVAR
dbSNP (RS) rs1057518570 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM255A CLINVAR
  ZBTB33 CLINVAR
OMIM 300329 CLINVAR