RGD:8629623 Rat Genome Database

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Variant: RGD:8629623 -  Homo sapiens

RGD ID: 8629623
ClinVar ID: CV84770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNAB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 6,151,338
GRCh38 1 6,091,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199863.1:c.301+803C>T
NM_172130.2:c.460+803C>T
NM_003636.3:c.502+803C>T
NM_001199860.1:c.502+803C>T
More...
intron|intron variant|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:KCNAB2
Accession:XM_047432878
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEGDPFSFSKSRTFIIEGTQCPQPDY*

Gene Symbol:KCNAB2
Accession:NM_001199862
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSMTYSESLRSVSSRCHSEWALHPVRQTDTLELQRLREVRAAAQARNMESFLRMHGLSLDGCTAQRTGMKYRNLGKSGL
RVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNGINLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAET
ERGLSRKHIIEGLKASLERLQLEYVDVVFANRPDPNTPMEGDPFSFSKSRTFIIEETVRAMTHVINQGMAMYWGTSRWSS
MEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGAMTWSPLACGIVSGKYDSGIPPYSRASLKGYQW
LKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSVLLGASNADQLMENIGAIQVLPKLSSSIIHEID
SILGNKPYSKKDYRS*

Gene Symbol:KCNAB2
Accession:XM_005263514
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199861
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_003636
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199863
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199860
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_011542321
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432867
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_017002620
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_172130
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_011542322
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432872
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432870
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_047432866
Location:INTRON

Variant Samples