RGD:155803127 Rat Genome Database

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Variant: RGD:155803127 -  Homo sapiens

RGD ID: 155803127
ClinVar ID: CV1857952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCND2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 119,915,029
GRCh38 7 120,274,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012281.3:c.343T>G
NG_034230.1:g.6308T>G
NC_000007.14:g.120274975T>G
NC_000007.13:g.119915029T>G
More... 		05/18/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KCND2
Accession:NM_012281
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVASGPMPAPPRQERKRTQDALIVLNVSGTRFQTWQDTLERYPDTLLGSSERDFFYHPET
QQYFFDRDPDIFRHILNFYRTGKLHYPRHECISADDEELAFFGLIPEIIGDCCYEEYKDRRRENAERLQDDADTDTAGES
ALPTMTARQRVWRAFENPHTSTMALVFYYVTGFFIAVSVIANVVETVPCGSSPGHIKELPCGERYAVAFFCLDTACVMIF
TVEYLLRLAAAPSRYRFVRSVMSIIDVVAILPYYIGLVMTDNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSC
ASELGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPAAFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIAL
PVPVIVSNFSRIYHQNQRADKRRAQKKARLARIRAAKSGSANAYMQSKRNGLLSNQLQSSEDEQAFVSKSGSSFETQHHH
LLHCLEKTTNHEFVDEQVFEESCMEVATVNRPSSHSPSLSSQQGVTSTCCSRRHKKTFRIPNANVSGSHQGSIQELSTIQ
IRCVERTPLSNSRSSLNAKMEECVKLNCEQPYVTTAIISIPTPPVTTPEGDDRPESPEYSGGNIVRVSAL*

Gene Symbol:KCND2
Accession:XM_047420346
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGVAAWLPFARAAAIGWMPVASGPMPAPPRQERKRTQDALIVLNVSGTRFQTWQDTLERYPDTLLGSSERDFFYHPET
QQYFFDRDPDIFRHILNFYRTGKLHYPRHECISADDEELAFFGLIPEIIGDCCYEEYKDRRRENAERLQDDADTDTAGES
ALPTMTARQRVWRAFENPHTSTMALVFYYVTGFFIAVSVIANVVETVPCGSSPGHIKELPCGERYAVAFFCLDTACVMIF
TVEYLLRLAAAPSRYRFVRSVMSIIDVVAILPYYIGLVMTDNEDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSC
ASELGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPAAFWYTIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIAL
PVPVIVSNFSRIYHQNQRADKRRAQKKARLARIRAAKSGSANAYMQSKRNGLLSNQLQSSEDEQAFVSKSGSSFETQHHH
LLHCLEKTTNHEFVDEQVFEESCMEVATVNRPSSHSPSLSSQQGVTSTCCSRRHKKTFRIPNANVSGSHQGSIQELSTIQ
IRCVERTPLSNSRSSLNAKMEECVKLNCEQPYVTTAIISIPTPPVTTPEGDDRPESPEYSGGNIVRVSAL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002461802 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCND2 CLINVAR
OMIM 605410 CLINVAR