SNP Links for Protein (Select 215272352) - SNP

Links from Protein

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Select item 14862560601.

rs1486256060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:73479331 (GRCh38)
10:75239089 (GRCh37)
Canonical SPDI:: NC_000010.11:73479330:T:G
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.73479331T>G, NC_000010.10:g.75239089T>G, NM_021132.4:c.272A>C, NM_021132.3:c.272A>C, NM_021132.2:c.272A>C, NM_001142353.3:c.272A>C, NM_001142353.2:c.272A>C, NM_001142353.1:c.272A>C, NM_001142354.3:c.272A>C, NM_001142354.2:c.272A>C, NM_001142354.1:c.272A>C, XM_005269944.2:c.272A>C, XM_005269944.1:c.272A>C, NM_001289969.2:c.14A>C, NM_001289969.1:c.14A>C, NM_001289968.2:c.272A>C, NM_001289968.1:c.272A>C, XM_047425429.1:c.14A>C, XM_047425430.1:c.14A>C, XM_047425426.1:c.272A>C, XM_047425427.1:c.272A>C, XM_047425428.1:c.14A>C, XM_047425431.1:c.14A>C, XM_047425432.1:c.14A>C, XM_047425433.1:c.14A>C, XM_047425434.1:c.14A>C, NP_066955.1:p.Glu91Ala, NP_001135825.1:p.Glu91Ala, NP_001135826.1:p.Glu91Ala, XP_005270001.1:p.Glu91Ala, NP_001276898.1:p.Glu5Ala, NP_001276897.1:p.Glu91Ala, XP_047281385.1:p.Glu5Ala, XP_047281386.1:p.Glu5Ala, XP_047281382.1:p.Glu91Ala, XP_047281383.1:p.Glu91Ala, XP_047281384.1:p.Glu5Ala, XP_047281387.1:p.Glu5Ala, XP_047281388.1:p.Glu5Ala, XP_047281389.1:p.Glu5Ala, XP_047281390.1:p.Glu5Ala

Select item 14842347622.

rs1484234762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:73470765 (GRCh38)
10:75230523 (GRCh37)
Canonical SPDI:: NC_000010.11:73470764:T:G
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73470765T>G, NC_000010.10:g.75230523T>G, NM_021132.4:c.904A>C, NM_021132.3:c.904A>C, NM_021132.2:c.904A>C, NM_001142353.3:c.904A>C, NM_001142353.2:c.904A>C, NM_001142353.1:c.904A>C, NM_001142354.3:c.904A>C, NM_001142354.2:c.904A>C, NM_001142354.1:c.904A>C, XM_005269944.2:c.904A>C, XM_005269944.1:c.904A>C, NM_001289969.2:c.646A>C, NM_001289969.1:c.646A>C, NM_001289968.2:c.958A>C, NM_001289968.1:c.958A>C, XM_047425429.1:c.646A>C, XM_047425430.1:c.646A>C, XM_047425426.1:c.904A>C, XM_047425427.1:c.904A>C, XM_047425428.1:c.646A>C, XM_047425431.1:c.646A>C, XM_047425432.1:c.646A>C, XM_047425433.1:c.646A>C, XM_047425434.1:c.646A>C, NP_066955.1:p.Lys302Gln, NP_001135825.1:p.Lys302Gln, NP_001135826.1:p.Lys302Gln, XP_005270001.1:p.Lys302Gln, NP_001276898.1:p.Lys216Gln, NP_001276897.1:p.Lys320Gln, XP_047281385.1:p.Lys216Gln, XP_047281386.1:p.Lys216Gln, XP_047281382.1:p.Lys302Gln, XP_047281383.1:p.Lys302Gln, XP_047281384.1:p.Lys216Gln, XP_047281387.1:p.Lys216Gln, XP_047281388.1:p.Lys216Gln, XP_047281389.1:p.Lys216Gln, XP_047281390.1:p.Lys216Gln

Select item 14801139053.

rs1480113905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73471528 (GRCh38)
10:75231286 (GRCh37)
Canonical SPDI:: NC_000010.11:73471527:C:T
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.73471528C>T, NC_000010.10:g.75231286C>T, NM_021132.4:c.609G>A, NM_021132.3:c.609G>A, NM_021132.2:c.609G>A, NM_001142353.3:c.609G>A, NM_001142353.2:c.609G>A, NM_001142353.1:c.609G>A, NM_001142354.3:c.609G>A, NM_001142354.2:c.609G>A, NM_001142354.1:c.609G>A, XM_005269944.2:c.609G>A, XM_005269944.1:c.609G>A, NM_001289969.2:c.351G>A, NM_001289969.1:c.351G>A, NM_001289968.2:c.663G>A, NM_001289968.1:c.663G>A, XM_047425429.1:c.351G>A, XM_047425430.1:c.351G>A, XM_047425426.1:c.609G>A, XM_047425427.1:c.609G>A, XM_047425428.1:c.351G>A, XM_047425431.1:c.351G>A, XM_047425432.1:c.351G>A, XM_047425433.1:c.351G>A, XM_047425434.1:c.351G>A

Select item 14767027144.

rs1476702714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73444750 (GRCh38)
10:75204508 (GRCh37)
Canonical SPDI:: NC_000010.11:73444749:A:G
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73444750A>G, NC_000010.10:g.75204508A>G, NM_021132.4:c.1341T>C, NM_021132.3:c.1341T>C, NM_021132.2:c.1341T>C, NM_001142353.3:c.1344T>C, NM_001142353.2:c.1344T>C, NM_001142353.1:c.1344T>C, NM_001142354.3:c.1344T>C, NM_001142354.2:c.1344T>C, NM_001142354.1:c.1344T>C, XM_005269944.2:c.1341T>C, XM_005269944.1:c.1341T>C, NM_001289969.2:c.1083T>C, NM_001289969.1:c.1083T>C, NM_001289968.2:c.1395T>C, NM_001289968.1:c.1395T>C, XM_047425429.1:c.1113T>C, XM_047425430.1:c.1113T>C, XM_047425426.1:c.1371T>C, XM_047425427.1:c.1371T>C, XM_047425428.1:c.1113T>C, XM_047425431.1:c.1086T>C, XM_047425432.1:c.1083T>C, XM_047425433.1:c.1086T>C, XM_047425434.1:c.1083T>C

Select item 14728781435.

rs1472878143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73471205 (GRCh38)
10:75230963 (GRCh37)
Canonical SPDI:: NC_000010.11:73471204:T:C
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73471205T>C, NC_000010.10:g.75230963T>C, NM_021132.4:c.674A>G, NM_021132.3:c.674A>G, NM_021132.2:c.674A>G, NM_001142353.3:c.674A>G, NM_001142353.2:c.674A>G, NM_001142353.1:c.674A>G, NM_001142354.3:c.674A>G, NM_001142354.2:c.674A>G, NM_001142354.1:c.674A>G, XM_005269944.2:c.674A>G, XM_005269944.1:c.674A>G, NM_001289969.2:c.416A>G, NM_001289969.1:c.416A>G, NM_001289968.2:c.728A>G, NM_001289968.1:c.728A>G, XM_047425429.1:c.416A>G, XM_047425430.1:c.416A>G, XM_047425426.1:c.674A>G, XM_047425427.1:c.674A>G, XM_047425428.1:c.416A>G, XM_047425431.1:c.416A>G, XM_047425432.1:c.416A>G, XM_047425433.1:c.416A>G, XM_047425434.1:c.416A>G, NP_066955.1:p.Asp225Gly, NP_001135825.1:p.Asp225Gly, NP_001135826.1:p.Asp225Gly, XP_005270001.1:p.Asp225Gly, NP_001276898.1:p.Asp139Gly, NP_001276897.1:p.Asp243Gly, XP_047281385.1:p.Asp139Gly, XP_047281386.1:p.Asp139Gly, XP_047281382.1:p.Asp225Gly, XP_047281383.1:p.Asp225Gly, XP_047281384.1:p.Asp139Gly, XP_047281387.1:p.Asp139Gly, XP_047281388.1:p.Asp139Gly, XP_047281389.1:p.Asp139Gly, XP_047281390.1:p.Asp139Gly

Select item 14660357016.

rs1466035701 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTCTCTTATACACATCTCC [Show Flanks]
Chromosome:: 10:73495865 (GRCh38)
10:75255624 (GRCh37)
Canonical SPDI:: NC_000010.11:73495865:CC:CCCTGTCTCTTATACACATCTCC
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,stop_gained,inframe_indel,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000010.11:g.73495867_73495868insCTGTCTCTTATACACATCTCC, NC_000010.10:g.75255625_75255626insCTGTCTCTTATACACATCTCC, NM_021132.4:c.24_25insAGATGTGTATAAGAGACAGGG, NM_021132.3:c.24_25insAGATGTGTATAAGAGACAGGG, NM_021132.2:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001142353.3:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001142353.2:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001142353.1:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001142354.3:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001142354.2:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001142354.1:c.24_25insAGATGTGTATAAGAGACAGGG, XM_005269944.2:c.24_25insAGATGTGTATAAGAGACAGGG, XM_005269944.1:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001289969.2:c.-354_-353insAGATGTGTATAAGAGACAGGG, NM_001289969.1:c.-354_-353insAGATGTGTATAAGAGACAGGG, NM_001289968.2:c.24_25insAGATGTGTATAAGAGACAGGG, NM_001289968.1:c.24_25insAGATGTGTATAAGAGACAGGG, XM_047425430.1:c.-354_-353insAGATGTGTATAAGAGACAGGG, XM_047425426.1:c.24_25insAGATGTGTATAAGAGACAGGG, XM_047425427.1:c.24_25insAGATGTGTATAAGAGACAGGG, NP_066955.1:p.Ala9delinsArgCysValTer, NP_001135825.1:p.Ala9delinsArgCysValTer, NP_001135826.1:p.Ala9delinsArgCysValTer, XP_005270001.1:p.Ala9delinsArgCysValTer, NP_001276897.1:p.Ala9delinsArgCysValTer, XP_047281382.1:p.Ala9delinsArgCysValTer, XP_047281383.1:p.Ala9delinsArgCysValTer

Select item 14659953957.

rs1465995395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:73479373 (GRCh38)
10:75239131 (GRCh37)
Canonical SPDI:: NC_000010.11:73479372:C:A
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73479373C>A, NC_000010.10:g.75239131C>A, NM_021132.4:c.230G>T, NM_021132.3:c.230G>T, NM_021132.2:c.230G>T, NM_001142353.3:c.230G>T, NM_001142353.2:c.230G>T, NM_001142353.1:c.230G>T, NM_001142354.3:c.230G>T, NM_001142354.2:c.230G>T, NM_001142354.1:c.230G>T, XM_005269944.2:c.230G>T, XM_005269944.1:c.230G>T, NM_001289969.2:c.-29G>T, NM_001289969.1:c.-29G>T, NM_001289968.2:c.230G>T, NM_001289968.1:c.230G>T, XM_047425429.1:c.-29G>T, XM_047425430.1:c.-29G>T, XM_047425426.1:c.230G>T, XM_047425427.1:c.230G>T, XM_047425428.1:c.-29G>T, XM_047425431.1:c.-29G>T, XM_047425432.1:c.-29G>T, XM_047425433.1:c.-29G>T, XM_047425434.1:c.-29G>T, NP_066955.1:p.Gly77Val, NP_001135825.1:p.Gly77Val, NP_001135826.1:p.Gly77Val, XP_005270001.1:p.Gly77Val, NP_001276897.1:p.Gly77Val, XP_047281382.1:p.Gly77Val, XP_047281383.1:p.Gly77Val

Select item 14641430528.

rs1464143052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73444729 (GRCh38)
10:75204487 (GRCh37)
Canonical SPDI:: NC_000010.11:73444728:T:C
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73444729T>C, NC_000010.10:g.75204487T>C, NM_021132.4:c.1362A>G, NM_021132.3:c.1362A>G, NM_021132.2:c.1362A>G, NM_001142353.3:c.1365A>G, NM_001142353.2:c.1365A>G, NM_001142353.1:c.1365A>G, NM_001142354.3:c.1365A>G, NM_001142354.2:c.1365A>G, NM_001142354.1:c.1365A>G, XM_005269944.2:c.1362A>G, XM_005269944.1:c.1362A>G, NM_001289969.2:c.1104A>G, NM_001289969.1:c.1104A>G, NM_001289968.2:c.1416A>G, NM_001289968.1:c.1416A>G, XM_047425429.1:c.1134A>G, XM_047425430.1:c.1134A>G, XM_047425426.1:c.1392A>G, XM_047425427.1:c.1392A>G, XM_047425428.1:c.1134A>G, XM_047425431.1:c.1107A>G, XM_047425432.1:c.1104A>G, XM_047425433.1:c.1107A>G, XM_047425434.1:c.1104A>G

Select item 14627575339.

rs1462757533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:73478532 (GRCh38)
10:75238290 (GRCh37)
Canonical SPDI:: NC_000010.11:73478531:G:A,NC_000010.11:73478531:G:T
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73478532G>A, NC_000010.11:g.73478532G>T, NC_000010.10:g.75238290G>A, NC_000010.10:g.75238290G>T, NM_021132.4:c.378C>T, NM_021132.4:c.378C>A, NM_021132.3:c.378C>T, NM_021132.3:c.378C>A, NM_021132.2:c.378C>T, NM_021132.2:c.378C>A, NM_001142353.3:c.378C>T, NM_001142353.3:c.378C>A, NM_001142353.2:c.378C>T, NM_001142353.2:c.378C>A, NM_001142353.1:c.378C>T, NM_001142353.1:c.378C>A, NM_001142354.3:c.378C>T, NM_001142354.3:c.378C>A, NM_001142354.2:c.378C>T, NM_001142354.2:c.378C>A, NM_001142354.1:c.378C>T, NM_001142354.1:c.378C>A, XM_005269944.2:c.378C>T, XM_005269944.2:c.378C>A, XM_005269944.1:c.378C>T, XM_005269944.1:c.378C>A, NM_001289969.2:c.120C>T, NM_001289969.2:c.120C>A, NM_001289969.1:c.120C>T, NM_001289969.1:c.120C>A, NM_001289968.2:c.378C>T, NM_001289968.2:c.378C>A, NM_001289968.1:c.378C>T, NM_001289968.1:c.378C>A, XM_047425429.1:c.120C>T, XM_047425429.1:c.120C>A, XM_047425430.1:c.120C>T, XM_047425430.1:c.120C>A, XM_047425426.1:c.378C>T, XM_047425426.1:c.378C>A, XM_047425427.1:c.378C>T, XM_047425427.1:c.378C>A, XM_047425428.1:c.120C>T, XM_047425428.1:c.120C>A, XM_047425431.1:c.120C>T, XM_047425431.1:c.120C>A, XM_047425432.1:c.120C>T, XM_047425432.1:c.120C>A, XM_047425433.1:c.120C>T, XM_047425433.1:c.120C>A, XM_047425434.1:c.120C>T, XM_047425434.1:c.120C>A

Select item 146192982110.

rs1461929821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73444753 (GRCh38)
10:75204511 (GRCh37)
Canonical SPDI:: NC_000010.11:73444752:T:C
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.73444753T>C, NC_000010.10:g.75204511T>C, NM_021132.4:c.1338A>G, NM_021132.3:c.1338A>G, NM_021132.2:c.1338A>G, NM_001142353.3:c.1341A>G, NM_001142353.2:c.1341A>G, NM_001142353.1:c.1341A>G, NM_001142354.3:c.1341A>G, NM_001142354.2:c.1341A>G, NM_001142354.1:c.1341A>G, XM_005269944.2:c.1338A>G, XM_005269944.1:c.1338A>G, NM_001289969.2:c.1080A>G, NM_001289969.1:c.1080A>G, NM_001289968.2:c.1392A>G, NM_001289968.1:c.1392A>G, XM_047425429.1:c.1110A>G, XM_047425430.1:c.1110A>G, XM_047425426.1:c.1368A>G, XM_047425427.1:c.1368A>G, XM_047425428.1:c.1110A>G, XM_047425431.1:c.1083A>G, XM_047425432.1:c.1080A>G, XM_047425433.1:c.1083A>G, XM_047425434.1:c.1080A>G

Select item 145487004811.

rs1454870048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73495871 (GRCh38)
10:75255629 (GRCh37)
Canonical SPDI:: NC_000010.11:73495870:C:T
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000010.11:g.73495871C>T, NC_000010.10:g.75255629C>T, NM_021132.4:c.19G>A, NM_021132.3:c.19G>A, NM_021132.2:c.19G>A, NM_001142353.3:c.19G>A, NM_001142353.2:c.19G>A, NM_001142353.1:c.19G>A, NM_001142354.3:c.19G>A, NM_001142354.2:c.19G>A, NM_001142354.1:c.19G>A, XM_005269944.2:c.19G>A, XM_005269944.1:c.19G>A, NM_001289969.2:c.-359G>A, NM_001289969.1:c.-359G>A, NM_001289968.2:c.19G>A, NM_001289968.1:c.19G>A, XM_047425430.1:c.-359G>A, XM_047425426.1:c.19G>A, XM_047425427.1:c.19G>A, NP_066955.1:p.Ala7Thr, NP_001135825.1:p.Ala7Thr, NP_001135826.1:p.Ala7Thr, XP_005270001.1:p.Ala7Thr, NP_001276897.1:p.Ala7Thr, XP_047281382.1:p.Ala7Thr, XP_047281383.1:p.Ala7Thr

Select item 145302038712.

rs1453020387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73470942 (GRCh38)
10:75230700 (GRCh37)
Canonical SPDI:: NC_000010.11:73470941:A:G
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000010.11:g.73470942A>G, NC_000010.10:g.75230700A>G, NM_021132.4:c.832T>C, NM_021132.3:c.832T>C, NM_021132.2:c.832T>C, NM_001142353.3:c.832T>C, NM_001142353.2:c.832T>C, NM_001142353.1:c.832T>C, NM_001142354.3:c.832T>C, NM_001142354.2:c.832T>C, NM_001142354.1:c.832T>C, XM_005269944.2:c.832T>C, XM_005269944.1:c.832T>C, NM_001289969.2:c.574T>C, NM_001289969.1:c.574T>C, NM_001289968.2:c.886T>C, NM_001289968.1:c.886T>C, XM_047425429.1:c.574T>C, XM_047425430.1:c.574T>C, XM_047425426.1:c.832T>C, XM_047425427.1:c.832T>C, XM_047425428.1:c.574T>C, XM_047425431.1:c.574T>C, XM_047425432.1:c.574T>C, XM_047425433.1:c.574T>C, XM_047425434.1:c.574T>C

Select item 144890151713.

rs1448901517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:73471478 (GRCh38)
10:75231236 (GRCh37)
Canonical SPDI:: NC_000010.11:73471477:T:G
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000671/3 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000010.11:g.73471478T>G, NC_000010.10:g.75231236T>G, NM_021132.4:c.659A>C, NM_021132.3:c.659A>C, NM_021132.2:c.659A>C, NM_001142353.3:c.659A>C, NM_001142353.2:c.659A>C, NM_001142353.1:c.659A>C, NM_001142354.3:c.659A>C, NM_001142354.2:c.659A>C, NM_001142354.1:c.659A>C, XM_005269944.2:c.659A>C, XM_005269944.1:c.659A>C, NM_001289969.2:c.401A>C, NM_001289969.1:c.401A>C, NM_001289968.2:c.713A>C, NM_001289968.1:c.713A>C, XM_047425429.1:c.401A>C, XM_047425430.1:c.401A>C, XM_047425426.1:c.659A>C, XM_047425427.1:c.659A>C, XM_047425428.1:c.401A>C, XM_047425431.1:c.401A>C, XM_047425432.1:c.401A>C, XM_047425433.1:c.401A>C, XM_047425434.1:c.401A>C, NP_066955.1:p.Asp220Ala, NP_001135825.1:p.Asp220Ala, NP_001135826.1:p.Asp220Ala, XP_005270001.1:p.Asp220Ala, NP_001276898.1:p.Asp134Ala, NP_001276897.1:p.Asp238Ala, XP_047281385.1:p.Asp134Ala, XP_047281386.1:p.Asp134Ala, XP_047281382.1:p.Asp220Ala, XP_047281383.1:p.Asp220Ala, XP_047281384.1:p.Asp134Ala, XP_047281387.1:p.Asp134Ala, XP_047281388.1:p.Asp134Ala, XP_047281389.1:p.Asp134Ala, XP_047281390.1:p.Asp134Ala

Select item 144821227914.

rs1448212279 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGTGGGGGCGG>-,GGGTGGGGGCGGGGGTGGGGGCGG [Show Flanks]
Chromosome:: 10:73495848 (GRCh38)
10:75255606 (GRCh37)
Canonical SPDI:: NC_000010.11:73495839:GGGGGCGGGGGTGGGGGCGG:GGGGGCGG,NC_000010.11:73495839:GGGGGCGGGGGTGGGGGCGG:GGGGGCGGGGGTGGGGGCGGGGGTGGGGGCGG
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,inframe_deletion,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGGGGCGGGGGTGGGGGCGGGGGTGGGGGCGG=0./0 (ALFA)
GGGGGCGGGGGT=0.00016/1 (1000Genomes)
HGVS:: NC_000010.11:g.73495848_73495859del, NC_000010.11:g.73495848_73495859dup, NC_000010.10:g.75255606_75255617del, NC_000010.10:g.75255606_75255617dup, NM_021132.4:c.39_50del, NM_021132.4:c.39_50dup, NM_021132.3:c.39_50del, NM_021132.3:c.39_50dup, NM_021132.2:c.39_50del, NM_021132.2:c.39_50dup, NM_001142353.3:c.39_50del, NM_001142353.3:c.39_50dup, NM_001142353.2:c.39_50del, NM_001142353.2:c.39_50dup, NM_001142353.1:c.39_50del, NM_001142353.1:c.39_50dup, NM_001142354.3:c.39_50del, NM_001142354.3:c.39_50dup, NM_001142354.2:c.39_50del, NM_001142354.2:c.39_50dup, NM_001142354.1:c.39_50del, NM_001142354.1:c.39_50dup, XM_005269944.2:c.39_50del, XM_005269944.2:c.39_50dup, XM_005269944.1:c.39_50del, XM_005269944.1:c.39_50dup, NM_001289969.2:c.-339_-328del, NM_001289969.2:c.-339_-328dup, NM_001289969.1:c.-339_-328del, NM_001289969.1:c.-339_-328dup, NM_001289968.2:c.39_50del, NM_001289968.2:c.39_50dup, NM_001289968.1:c.39_50del, NM_001289968.1:c.39_50dup, XM_047425430.1:c.-339_-328del, XM_047425430.1:c.-339_-328dup, XM_047425426.1:c.39_50del, XM_047425426.1:c.39_50dup, XM_047425427.1:c.39_50del, XM_047425427.1:c.39_50dup, NP_066955.1:p.Pro18_Pro21del, NP_066955.1:p.Pro18_Pro21dup, NP_001135825.1:p.Pro18_Pro21del, NP_001135825.1:p.Pro18_Pro21dup, NP_001135826.1:p.Pro18_Pro21del, NP_001135826.1:p.Pro18_Pro21dup, XP_005270001.1:p.Pro18_Pro21del, XP_005270001.1:p.Pro18_Pro21dup, NP_001276897.1:p.Pro18_Pro21del, NP_001276897.1:p.Pro18_Pro21dup, XP_047281382.1:p.Pro18_Pro21del, XP_047281382.1:p.Pro18_Pro21dup, XP_047281383.1:p.Pro18_Pro21del, XP_047281383.1:p.Pro18_Pro21dup

Select item 144790790015.

rs1447907900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:73495844 (GRCh38)
10:75255602 (GRCh37)
Canonical SPDI:: NC_000010.11:73495843:G:A
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.73495844G>A, NC_000010.10:g.75255602G>A, NM_021132.4:c.46C>T, NM_021132.3:c.46C>T, NM_021132.2:c.46C>T, NM_001142353.3:c.46C>T, NM_001142353.2:c.46C>T, NM_001142353.1:c.46C>T, NM_001142354.3:c.46C>T, NM_001142354.2:c.46C>T, NM_001142354.1:c.46C>T, XM_005269944.2:c.46C>T, XM_005269944.1:c.46C>T, NM_001289969.2:c.-332C>T, NM_001289969.1:c.-332C>T, NM_001289968.2:c.46C>T, NM_001289968.1:c.46C>T, XM_047425430.1:c.-332C>T, XM_047425426.1:c.46C>T, XM_047425427.1:c.46C>T, NP_066955.1:p.Pro16Ser, NP_001135825.1:p.Pro16Ser, NP_001135826.1:p.Pro16Ser, XP_005270001.1:p.Pro16Ser, NP_001276897.1:p.Pro16Ser, XP_047281382.1:p.Pro16Ser, XP_047281383.1:p.Pro16Ser

Select item 144685551916.

rs1446855519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73479333 (GRCh38)
10:75239091 (GRCh37)
Canonical SPDI:: NC_000010.11:73479332:T:C
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73479333T>C, NC_000010.10:g.75239091T>C, NM_021132.4:c.270A>G, NM_021132.3:c.270A>G, NM_021132.2:c.270A>G, NM_001142353.3:c.270A>G, NM_001142353.2:c.270A>G, NM_001142353.1:c.270A>G, NM_001142354.3:c.270A>G, NM_001142354.2:c.270A>G, NM_001142354.1:c.270A>G, XM_005269944.2:c.270A>G, XM_005269944.1:c.270A>G, NM_001289969.2:c.12A>G, NM_001289969.1:c.12A>G, NM_001289968.2:c.270A>G, NM_001289968.1:c.270A>G, XM_047425429.1:c.12A>G, XM_047425430.1:c.12A>G, XM_047425426.1:c.270A>G, XM_047425427.1:c.270A>G, XM_047425428.1:c.12A>G, XM_047425431.1:c.12A>G, XM_047425432.1:c.12A>G, XM_047425433.1:c.12A>G, XM_047425434.1:c.12A>G

Select item 144356998717.

rs1443569987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73471507 (GRCh38)
10:75231265 (GRCh37)
Canonical SPDI:: NC_000010.11:73471506:T:C
Gene:: PPP3CB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73471507T>C, NC_000010.10:g.75231265T>C, NM_021132.4:c.630A>G, NM_021132.3:c.630A>G, NM_021132.2:c.630A>G, NM_001142353.3:c.630A>G, NM_001142353.2:c.630A>G, NM_001142353.1:c.630A>G, NM_001142354.3:c.630A>G, NM_001142354.2:c.630A>G, NM_001142354.1:c.630A>G, XM_005269944.2:c.630A>G, XM_005269944.1:c.630A>G, NM_001289969.2:c.372A>G, NM_001289969.1:c.372A>G, NM_001289968.2:c.684A>G, NM_001289968.1:c.684A>G, XM_047425429.1:c.372A>G, XM_047425430.1:c.372A>G, XM_047425426.1:c.630A>G, XM_047425427.1:c.630A>G, XM_047425428.1:c.372A>G, XM_047425431.1:c.372A>G, XM_047425432.1:c.372A>G, XM_047425433.1:c.372A>G, XM_047425434.1:c.372A>G

Select item 144023635218.

rs1440236352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:73495855 (GRCh38)
10:75255613 (GRCh37)
Canonical SPDI:: NC_000010.11:73495854:G:A,NC_000010.11:73495854:G:T
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73495855G>A, NC_000010.11:g.73495855G>T, NC_000010.10:g.75255613G>A, NC_000010.10:g.75255613G>T, NM_021132.4:c.35C>T, NM_021132.4:c.35C>A, NM_021132.3:c.35C>T, NM_021132.3:c.35C>A, NM_021132.2:c.35C>T, NM_021132.2:c.35C>A, NM_001142353.3:c.35C>T, NM_001142353.3:c.35C>A, NM_001142353.2:c.35C>T, NM_001142353.2:c.35C>A, NM_001142353.1:c.35C>T, NM_001142353.1:c.35C>A, NM_001142354.3:c.35C>T, NM_001142354.3:c.35C>A, NM_001142354.2:c.35C>T, NM_001142354.2:c.35C>A, NM_001142354.1:c.35C>T, NM_001142354.1:c.35C>A, XM_005269944.2:c.35C>T, XM_005269944.2:c.35C>A, XM_005269944.1:c.35C>T, XM_005269944.1:c.35C>A, NM_001289969.2:c.-343C>T, NM_001289969.2:c.-343C>A, NM_001289969.1:c.-343C>T, NM_001289969.1:c.-343C>A, NM_001289968.2:c.35C>T, NM_001289968.2:c.35C>A, NM_001289968.1:c.35C>T, NM_001289968.1:c.35C>A, XM_047425430.1:c.-343C>T, XM_047425430.1:c.-343C>A, XM_047425426.1:c.35C>T, XM_047425426.1:c.35C>A, XM_047425427.1:c.35C>T, XM_047425427.1:c.35C>A, NP_066955.1:p.Pro12Leu, NP_066955.1:p.Pro12His, NP_001135825.1:p.Pro12Leu, NP_001135825.1:p.Pro12His, NP_001135826.1:p.Pro12Leu, NP_001135826.1:p.Pro12His, XP_005270001.1:p.Pro12Leu, XP_005270001.1:p.Pro12His, NP_001276897.1:p.Pro12Leu, NP_001276897.1:p.Pro12His, XP_047281382.1:p.Pro12Leu, XP_047281382.1:p.Pro12His, XP_047281383.1:p.Pro12Leu, XP_047281383.1:p.Pro12His

Select item 143753875019.

rs1437538750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73444730 (GRCh38)
10:75204488 (GRCh37)
Canonical SPDI:: NC_000010.11:73444729:T:C
Gene:: PPP3CB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73444730T>C, NC_000010.10:g.75204488T>C, NM_021132.4:c.1361A>G, NM_021132.3:c.1361A>G, NM_021132.2:c.1361A>G, NM_001142353.3:c.1364A>G, NM_001142353.2:c.1364A>G, NM_001142353.1:c.1364A>G, NM_001142354.3:c.1364A>G, NM_001142354.2:c.1364A>G, NM_001142354.1:c.1364A>G, XM_005269944.2:c.1361A>G, XM_005269944.1:c.1361A>G, NM_001289969.2:c.1103A>G, NM_001289969.1:c.1103A>G, NM_001289968.2:c.1415A>G, NM_001289968.1:c.1415A>G, XM_047425429.1:c.1133A>G, XM_047425430.1:c.1133A>G, XM_047425426.1:c.1391A>G, XM_047425427.1:c.1391A>G, XM_047425428.1:c.1133A>G, XM_047425431.1:c.1106A>G, XM_047425432.1:c.1103A>G, XM_047425433.1:c.1106A>G, XM_047425434.1:c.1103A>G, NP_066955.1:p.Gln454Arg, NP_001135825.1:p.Gln455Arg, NP_001135826.1:p.Gln455Arg, XP_005270001.1:p.Gln454Arg, NP_001276898.1:p.Gln368Arg, NP_001276897.1:p.Gln472Arg, XP_047281385.1:p.Gln378Arg, XP_047281386.1:p.Gln378Arg, XP_047281382.1:p.Gln464Arg, XP_047281383.1:p.Gln464Arg, XP_047281384.1:p.Gln378Arg, XP_047281387.1:p.Gln369Arg, XP_047281388.1:p.Gln368Arg, XP_047281389.1:p.Gln369Arg, XP_047281390.1:p.Gln368Arg

Select item 143556633620.

rs1435566336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73471586 (GRCh38)
10:75231344 (GRCh37)
Canonical SPDI:: NC_000010.11:73471585:T:C
Gene:: PPP3CB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.73471586T>C, NC_000010.10:g.75231344T>C, NM_021132.4:c.551A>G, NM_021132.3:c.551A>G, NM_021132.2:c.551A>G, NM_001142353.3:c.551A>G, NM_001142353.2:c.551A>G, NM_001142353.1:c.551A>G, NM_001142354.3:c.551A>G, NM_001142354.2:c.551A>G, NM_001142354.1:c.551A>G, XM_005269944.2:c.551A>G, XM_005269944.1:c.551A>G, NM_001289969.2:c.293A>G, NM_001289969.1:c.293A>G, NM_001289968.2:c.605A>G, NM_001289968.1:c.605A>G, XM_047425429.1:c.293A>G, XM_047425430.1:c.293A>G, XM_047425426.1:c.551A>G, XM_047425427.1:c.551A>G, XM_047425428.1:c.293A>G, XM_047425431.1:c.293A>G, XM_047425432.1:c.293A>G, XM_047425433.1:c.293A>G, XM_047425434.1:c.293A>G, NP_066955.1:p.Tyr184Cys, NP_001135825.1:p.Tyr184Cys, NP_001135826.1:p.Tyr184Cys, XP_005270001.1:p.Tyr184Cys, NP_001276898.1:p.Tyr98Cys, NP_001276897.1:p.Tyr202Cys, XP_047281385.1:p.Tyr98Cys, XP_047281386.1:p.Tyr98Cys, XP_047281382.1:p.Tyr184Cys, XP_047281383.1:p.Tyr184Cys, XP_047281384.1:p.Tyr98Cys, XP_047281387.1:p.Tyr98Cys, XP_047281388.1:p.Tyr98Cys, XP_047281389.1:p.Tyr98Cys, XP_047281390.1:p.Tyr98Cys

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