RGD:15166318 Rat Genome Database

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Variant: RGD:15166318 -  Homo sapiens

RGD ID: 15166318
RS ID: rs372509043
ClinVar ID: CV746588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNAB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 6,101,918
GRCh38 1 6,041,858
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003636.3:c.105G>A
NM_001199860.2:c.105G>A
NM_001199861.2:c.105G>A
NM_003636.4:c.105G>A
More...
06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNAB2
Accession:XM_011542322
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVRVRGPAGQRAHPSPSPVQCILPGSSCVPGSVLGTQDAPVNHQSCAPGELAFQQEQT*

Gene Symbol:KCNAB2
Accession:XM_047432866
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVRVRGPAGQRAHPSPSPVQCILPGSSCVPGSVLGTQDAPVNHQSCAPGELAFQQEQT*

Gene Symbol:KCNAB2
Accession:NM_001199861
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPYSKKDYRS*

Gene Symbol:KCNAB2
Accession:XM_011542321
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVRVRGPAGQRAHPSPSPVQCILPGSSCVPGSVLGTQDAPVNHQSCAPGELAFQQEQT*

Gene Symbol:KCNAB2
Accession:XM_047432867
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPYSKKDYRS*

Gene Symbol:KCNAB2
Accession:NM_001199860
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPYSKKDYRS*

Gene Symbol:KCNAB2
Accession:XM_047432878
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEGDPFSSSKSRTFIIEGTQCPQPDY*

Gene Symbol:KCNAB2
Accession:XM_047432870
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPYSKKDYRS*

Gene Symbol:KCNAB2
Accession:NM_003636
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPESTTGSPARLSLRQTGSPGMIYSTRYGSPKRQLQFYRNLGKSGLRVSCLGLGTWVTFGGQITDEMAEQLMTLAYDNG
INLFDTAEVYAAGKAEVVLGNIIKKKGWRRSSLVITTKIFWGGKAETERGLSRKHIIEGLKASLERLQLEYVDVVFANRP
DPNTPMEETVRAMTHVINQGMAMYWGTSRWSSMEIMEAYSVARQFNLTPPICEQAEYHMFQREKVEVQLPELFHKIGVGA
MTWSPLACGIVSGKYDSGIPPYSRASLKGYQWLKDKILSEEGRRQQAKLKELQAIAERLGCTLPQLAIAWCLRNEGVSSV
LLGASNADQLMENIGAIQVLPKLSSSIIHEIDSILGNKPYSKKDYRS*

Gene Symbol:KCNAB2
Accession:XM_047432872
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_172130
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_017002620
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199863
Location:INTRON

Gene Symbol:KCNAB2
Accession:NM_001199862
Location:INTRON

Gene Symbol:KCNAB2
Accession:XM_005263514
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926840 CLINVAR
dbSNP (RS) rs372509043 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KCNAB2 CLINVAR
OMIM 601142 CLINVAR