SNP Links for Protein (Select 55953117) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67429132 (GRCh38)
11:67196603 (GRCh37)
Canonical SPDI:: NC_000011.10:67429131:C:T
Gene:: RPS6KB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67429132C>T, NC_000011.9:g.67196603C>T, NM_003952.3:c.132C>T, NM_003952.2:c.132C>T, NM_001007071.1:c.132C>T, XM_047427395.1:c.132C>T, XM_047427396.1:c.132C>T

Select item 14783320608.

rs1478332060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:67434017 (GRCh38)
11:67201488 (GRCh37)
Canonical SPDI:: NC_000011.10:67434016:A:C
Gene:: RPS6KB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67434017A>C, NC_000011.9:g.67201488A>C, XM_006718656.4:c.329A>C, XM_006718656.3:c.329A>C, XM_006718656.2:c.329A>C, XM_006718656.1:c.329A>C, NM_003952.3:c.929A>C, NM_003952.2:c.929A>C, NM_001007071.1:c.*16A>C, XM_047427395.1:c.*16A>C, XM_047427396.1:c.*16A>C, XP_006718719.1:p.Gln110Pro, NP_003943.2:p.Gln310Pro

Select item 14771824959.

rs1477182495 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:67434479 (GRCh38)
11:67201950 (GRCh37)
Canonical SPDI:: NC_000011.10:67434478:TT:T
Gene:: RPS6KB2 (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.67434480del, NC_000011.9:g.67201951del, XM_006718656.4:c.551del, XM_006718656.3:c.551del, XM_006718656.2:c.551del, XM_006718656.1:c.551del, NM_003952.3:c.1151del, NM_003952.2:c.1151del, NM_001007071.1:c.*238del, XP_006718719.1:p.Phe184fs, NP_003943.2:p.Phe384fs

Select item 147495160910.

rs1474951609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67433200 (GRCh38)
11:67200671 (GRCh37)
Canonical SPDI:: NC_000011.10:67433199:A:G
Gene:: RPS6KB2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.67433200A>G, NC_000011.9:g.67200671A>G, XM_006718656.4:c.182A>G, XM_006718656.3:c.182A>G, XM_006718656.2:c.182A>G, XM_006718656.1:c.182A>G, NM_003952.3:c.782A>G, NM_003952.2:c.782A>G, XP_006718719.1:p.Asp61Gly, NP_003943.2:p.Asp261Gly

Select item 147200201611.

rs1472002016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67429577 (GRCh38)
11:67197048 (GRCh37)
Canonical SPDI:: NC_000011.10:67429576:C:T
Gene:: RPS6KB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.67429577C>T, NC_000011.9:g.67197048C>T, NM_003952.3:c.291C>T, NM_003952.2:c.291C>T, NM_001007071.1:c.291C>T, XM_047427395.1:c.291C>T, XM_047427396.1:c.291C>T

Select item 147111965312.

rs1471119653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67434584 (GRCh38)
11:67202055 (GRCh37)
Canonical SPDI:: NC_000011.10:67434583:C:T
Gene:: RPS6KB2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67434584C>T, NC_000011.9:g.67202055C>T, XM_006718656.4:c.558C>T, XM_006718656.3:c.558C>T, XM_006718656.2:c.558C>T, XM_006718656.1:c.558C>T, NM_003952.3:c.1158C>T, NM_003952.2:c.1158C>T, NM_001007071.1:c.*245C>T

Select item 146800424613.

rs1468004246 [Homo sapiens]

Variant type:: DEL
Alleles:: TCCGGCAC>- [Show Flanks]
Chromosome:: 11:67434211 (GRCh38)
11:67201682 (GRCh37)
Canonical SPDI:: NC_000011.10:67434210:TCCGGCAC:
Gene:: RPS6KB2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67434211_67434218del, NC_000011.9:g.67201682_67201689del, XM_006718656.4:c.383_390del, XM_006718656.3:c.383_390del, XM_006718656.2:c.383_390del, XM_006718656.1:c.383_390del, NM_003952.3:c.983_990del, NM_003952.2:c.983_990del, NM_001007071.1:c.*70_*77del, XP_006718719.1:p.Phe128fs, NP_003943.2:p.Phe328fs

Select item 146577240114.

rs1465772401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67433424 (GRCh38)
11:67200895 (GRCh37)
Canonical SPDI:: NC_000011.10:67433423:G:C
Gene:: RPS6KB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.67433424G>C, NC_000011.9:g.67200895G>C, XM_006718656.4:c.283G>C, XM_006718656.3:c.283G>C, XM_006718656.2:c.283G>C, XM_006718656.1:c.283G>C, NM_003952.3:c.883G>C, NM_003952.2:c.883G>C, NM_001007071.1:c.861G>C, XM_047427395.1:c.861G>C, XM_047427396.1:c.792G>C, XP_006718719.1:p.Asp95His, NP_003943.2:p.Asp295His, XP_047283351.1:p.Gln287His, XP_047283352.1:p.Gln264His

Select item 146509344315.

rs1465093443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67435144 (GRCh38)
11:67202615 (GRCh37)
Canonical SPDI:: NC_000011.10:67435143:G:C
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67435144G>C, NC_000011.9:g.67202615G>C, XM_006718656.4:c.824G>C, XM_006718656.3:c.824G>C, XM_006718656.2:c.824G>C, XM_006718656.1:c.824G>C, NM_003952.3:c.1424G>C, NM_003952.2:c.1424G>C, NM_001007071.1:c.*511G>C, XP_006718719.1:p.Arg275Thr, NP_003943.2:p.Arg475Thr

Select item 146341122516.

rs1463411225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67429211 (GRCh38)
11:67196682 (GRCh37)
Canonical SPDI:: NC_000011.10:67429210:C:T
Gene:: RPS6KB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.67429211C>T, NC_000011.9:g.67196682C>T, NM_003952.3:c.211C>T, NM_003952.2:c.211C>T, NM_001007071.1:c.211C>T, XM_047427395.1:c.211C>T, XM_047427396.1:c.211C>T, NP_003943.2:p.Arg71Cys, XP_047283351.1:p.Arg71Cys, XP_047283352.1:p.Arg71Cys

Select item 146243490917.

rs1462434909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67434688 (GRCh38)
11:67202159 (GRCh37)
Canonical SPDI:: NC_000011.10:67434687:C:T
Gene:: RPS6KB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0002/1 (1000Genomes)
HGVS:: NC_000011.10:g.67434688C>T, NC_000011.9:g.67202159C>T, XM_006718656.4:c.662C>T, XM_006718656.3:c.662C>T, XM_006718656.2:c.662C>T, XM_006718656.1:c.662C>T, NM_003952.3:c.1262C>T, NM_003952.2:c.1262C>T, NM_001007071.1:c.*349C>T, XP_006718719.1:p.Pro221Leu, NP_003943.2:p.Pro421Leu

Select item 146225145718.

rs1462251457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:67428560 (GRCh38)
11:67196031 (GRCh37)
Canonical SPDI:: NC_000011.10:67428559:T:G
Gene:: RPS6KB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67428560T>G, NC_000011.9:g.67196031T>G, NM_003952.3:c.15T>G, NM_003952.2:c.15T>G, NM_001007071.1:c.15T>G, XM_047427395.1:c.15T>G, XM_047427396.1:c.15T>G, NP_003943.2:p.Phe5Leu, XP_047283351.1:p.Phe5Leu, XP_047283352.1:p.Phe5Leu

Select item 146011026419.

rs1460110264 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCGCCCTCGACCACCGCC [Show Flanks]
Chromosome:: 11:67435073 (GRCh38)
11:67202545 (GRCh37)
Canonical SPDI:: NC_000011.10:67435073:CCACCGCCGCCGCCCTCGACCACCGCC:CCACCGCCGCCGCCCTCGACCACCGCCGCCGCCCTCGACCACCGCC
Gene:: PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,frameshift_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCACCGCCGCCGCCCTCGACCACCGCCGCCGCCCTCGACCACCGCC=0./0 (ALFA)
CCACCGCCGCCGCCCTCGA=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67435082_67435100dup, NC_000011.9:g.67202553_67202571dup, XM_006718656.4:c.762_780dup, XM_006718656.3:c.762_780dup, XM_006718656.2:c.762_780dup, XM_006718656.1:c.762_780dup, NM_003952.3:c.1362_1380dup, NM_003952.2:c.1362_1380dup, NM_001007071.1:c.*449_*467dup, XP_006718719.1:p.Pro261fs, NP_003943.2:p.Pro461fs

Select item 145863055620.

rs1458630556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67433166 (GRCh38)
11:67200637 (GRCh37)
Canonical SPDI:: NC_000011.10:67433165:G:A
Gene:: RPS6KB2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.67433166G>A, NC_000011.9:g.67200637G>A, XM_006718656.4:c.148G>A, XM_006718656.3:c.148G>A, XM_006718656.2:c.148G>A, XM_006718656.1:c.148G>A, NM_003952.3:c.748G>A, NM_003952.2:c.748G>A, NM_001007071.1:c.748G>A, XM_047427395.1:c.748G>A, XP_006718719.1:p.Val50Met, NP_003943.2:p.Val250Met, XP_047283351.1:p.Val250Met

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