SNP Links for Protein (Select 217416347) - SNP

Links from Protein

Items: 1 to 20 of 1423

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Select item 14909747661.

rs1490974766 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>-,TCCTCC [Show Flanks]
Chromosome:: 17:75502285 (GRCh38)
17:73498366 (GRCh37)
Canonical SPDI:: NC_000017.11:75502274:CTCCTCCTCCTCC:CTCCTCCTCC,NC_000017.11:75502274:CTCCTCCTCCTCC:CTCCTCCTCCTCCTCC
Gene:: CASKIN2 (Varview)
Functional Consequence:: inframe_insertion,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTCCTCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75502276TCC[3], NC_000017.11:g.75502276TCC[5], NC_000017.10:g.73498357TCC[3], NC_000017.10:g.73498357TCC[5], NG_054884.1:g.66118TCC[3], NG_054884.1:g.66118TCC[5], NG_033152.1:g.18298GAG[3], NG_033152.1:g.18298GAG[5], NM_020753.5:c.2788GAG[3], NM_020753.5:c.2788GAG[5], NM_020753.4:c.2788GAG[3], NM_020753.4:c.2788GAG[5], NM_001142643.3:c.2542GAG[3], NM_001142643.3:c.2542GAG[5], NM_001142643.2:c.2542GAG[3], NM_001142643.2:c.2542GAG[5], XM_047436459.1:c.2788GAG[3], XM_047436459.1:c.2788GAG[5], NP_065804.2:p.Glu933del, NP_065804.2:p.Glu933dup, NP_001136115.1:p.Glu851del, NP_001136115.1:p.Glu851dup, XP_047292415.1:p.Glu933del, XP_047292415.1:p.Glu933dup

Select item 14904526432.

rs1490452643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75502992 (GRCh38)
17:73499073 (GRCh37)
Canonical SPDI:: NC_000017.11:75502991:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75502992G>A, NC_000017.10:g.73499073G>A, NG_033152.1:g.17592C>T, NM_020753.5:c.2082C>T, NM_020753.4:c.2082C>T, NM_001142643.3:c.1836C>T, NM_001142643.2:c.1836C>T, XM_047436459.1:c.2082C>T

Select item 14904377113.

rs1490437711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75502370 (GRCh38)
17:73498451 (GRCh37)
Canonical SPDI:: NC_000017.11:75502369:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75502370G>A, NC_000017.10:g.73498451G>A, NG_054884.1:g.66212G>A, NG_033152.1:g.18214C>T, NM_020753.5:c.2704C>T, NM_020753.4:c.2704C>T, NM_001142643.3:c.2458C>T, NM_001142643.2:c.2458C>T, XM_047436459.1:c.2704C>T, NP_065804.2:p.Pro902Ser, NP_001136115.1:p.Pro820Ser, XP_047292415.1:p.Pro902Ser

Select item 14902978674.

rs1490297867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:75501615 (GRCh38)
17:73497696 (GRCh37)
Canonical SPDI:: NC_000017.11:75501614:C:G
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75501615C>G, NC_000017.10:g.73497696C>G, NG_054884.1:g.65457C>G, NG_033152.1:g.18969G>C, NM_020753.5:c.3371G>C, NM_020753.4:c.3371G>C, NM_001142643.3:c.3125G>C, NM_001142643.2:c.3125G>C, XM_047436459.1:c.3371G>C, NP_065804.2:p.Gly1124Ala, NP_001136115.1:p.Gly1042Ala, XP_047292415.1:p.Gly1124Ala

Select item 14902234015.

rs1490223401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75502717 (GRCh38)
17:73498798 (GRCh37)
Canonical SPDI:: NC_000017.11:75502716:G:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75502717G>T, NC_000017.10:g.73498798G>T, NG_033152.1:g.17867C>A, NM_020753.5:c.2357C>A, NM_020753.4:c.2357C>A, NM_001142643.3:c.2111C>A, NM_001142643.2:c.2111C>A, XM_047436459.1:c.2357C>A, NP_065804.2:p.Ala786Asp, NP_001136115.1:p.Ala704Asp, XP_047292415.1:p.Ala786Asp

Select item 14893353596.

rs1489335359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75503151 (GRCh38)
17:73499232 (GRCh37)
Canonical SPDI:: NC_000017.11:75503150:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.75503151C>T, NC_000017.10:g.73499232C>T, NG_033152.1:g.17433G>A, NM_020753.5:c.1923G>A, NM_020753.4:c.1923G>A, NM_001142643.3:c.1677G>A, NM_001142643.2:c.1677G>A, XM_047436459.1:c.1923G>A

Select item 14881468637.

rs1488146863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75503069 (GRCh38)
17:73499150 (GRCh37)
Canonical SPDI:: NC_000017.11:75503068:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75503069C>T, NC_000017.10:g.73499150C>T, NG_033152.1:g.17515G>A, NM_020753.5:c.2005G>A, NM_020753.4:c.2005G>A, NM_001142643.3:c.1759G>A, NM_001142643.2:c.1759G>A, XM_047436459.1:c.2005G>A, NP_065804.2:p.Gly669Ser, NP_001136115.1:p.Gly587Ser, XP_047292415.1:p.Gly669Ser

Select item 14877764248.

rs1487776424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75504256 (GRCh38)
17:73500337 (GRCh37)
Canonical SPDI:: NC_000017.11:75504255:A:G
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75504256A>G, NC_000017.10:g.73500337A>G, NG_033152.1:g.16328T>C, NM_020753.5:c.1426T>C, NM_020753.4:c.1426T>C, NM_001142643.3:c.1180T>C, NM_001142643.2:c.1180T>C, XM_047436459.1:c.1426T>C, NP_065804.2:p.Phe476Leu, NP_001136115.1:p.Phe394Leu, XP_047292415.1:p.Phe476Leu

Select item 14873567369.

rs1487356736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75506604 (GRCh38)
17:73502685 (GRCh37)
Canonical SPDI:: NC_000017.11:75506603:T:C
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75506604T>C, NC_000017.10:g.73502685T>C, NG_033152.1:g.13980A>G, NM_020753.5:c.596A>G, NM_020753.4:c.596A>G, NM_001142643.3:c.350A>G, NM_001142643.2:c.350A>G, XM_047436459.1:c.596A>G, NP_065804.2:p.Asn199Ser, NP_001136115.1:p.Asn117Ser, XP_047292415.1:p.Asn199Ser

Select item 148714954310.

rs1487149543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75505835 (GRCh38)
17:73501916 (GRCh37)
Canonical SPDI:: NC_000017.11:75505834:T:C
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75505835T>C, NC_000017.10:g.73501916T>C, NG_033152.1:g.14749A>G, NM_020753.5:c.821A>G, NM_020753.4:c.821A>G, NM_001142643.3:c.575A>G, NM_001142643.2:c.575A>G, XM_047436459.1:c.821A>G, NP_065804.2:p.Lys274Arg, NP_001136115.1:p.Lys192Arg, XP_047292415.1:p.Lys274Arg

Select item 148711821711.

rs1487118217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75504842 (GRCh38)
17:73500923 (GRCh37)
Canonical SPDI:: NC_000017.11:75504841:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75504842G>A, NC_000017.10:g.73500923G>A, NG_033152.1:g.15742C>T, NM_020753.5:c.1162C>T, NM_020753.4:c.1162C>T, NM_001142643.3:c.916C>T, NM_001142643.2:c.916C>T, XM_047436459.1:c.1162C>T, NP_065804.2:p.Pro388Ser, NP_001136115.1:p.Pro306Ser, XP_047292415.1:p.Pro388Ser

Select item 148694619212.

rs1486946192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:75502972 (GRCh38)
17:73499053 (GRCh37)
Canonical SPDI:: NC_000017.11:75502971:A:C,NC_000017.11:75502971:A:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.75502972A>C, NC_000017.11:g.75502972A>T, NC_000017.10:g.73499053A>C, NC_000017.10:g.73499053A>T, NG_033152.1:g.17612T>G, NG_033152.1:g.17612T>A, NM_020753.5:c.2102T>G, NM_020753.5:c.2102T>A, NM_020753.4:c.2102T>G, NM_020753.4:c.2102T>A, NM_001142643.3:c.1856T>G, NM_001142643.3:c.1856T>A, NM_001142643.2:c.1856T>G, NM_001142643.2:c.1856T>A, XM_047436459.1:c.2102T>G, XM_047436459.1:c.2102T>A, NP_065804.2:p.Ile701Ser, NP_065804.2:p.Ile701Asn, NP_001136115.1:p.Ile619Ser, NP_001136115.1:p.Ile619Asn, XP_047292415.1:p.Ile701Ser, XP_047292415.1:p.Ile701Asn

Select item 148688423313.

rs1486884233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75502553 (GRCh38)
17:73498634 (GRCh37)
Canonical SPDI:: NC_000017.11:75502552:T:C
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.75502553T>C, NC_000017.10:g.73498634T>C, NG_033152.1:g.18031A>G, NM_020753.5:c.2521A>G, NM_020753.4:c.2521A>G, NM_001142643.3:c.2275A>G, NM_001142643.2:c.2275A>G, XM_047436459.1:c.2521A>G, NP_065804.2:p.Thr841Ala, NP_001136115.1:p.Thr759Ala, XP_047292415.1:p.Thr841Ala

Select item 148525122914.

rs1485251229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75502741 (GRCh38)
17:73498822 (GRCh37)
Canonical SPDI:: NC_000017.11:75502740:A:G
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000017.11:g.75502741A>G, NC_000017.10:g.73498822A>G, NG_033152.1:g.17843T>C, NM_020753.5:c.2333T>C, NM_020753.4:c.2333T>C, NM_001142643.3:c.2087T>C, NM_001142643.2:c.2087T>C, XM_047436459.1:c.2333T>C, NP_065804.2:p.Phe778Ser, NP_001136115.1:p.Phe696Ser, XP_047292415.1:p.Phe778Ser

Select item 148425779215.

rs1484257792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75506708 (GRCh38)
17:73502789 (GRCh37)
Canonical SPDI:: NC_000017.11:75506707:G:C
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75506708G>C, NC_000017.10:g.73502789G>C, NG_033152.1:g.13876C>G, NM_020753.5:c.492C>G, NM_020753.4:c.492C>G, NM_001142643.3:c.246C>G, NM_001142643.2:c.246C>G, XM_047436459.1:c.492C>G

Select item 148346429316.

rs1483464293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:75502549 (GRCh38)
17:73498630 (GRCh37)
Canonical SPDI:: NC_000017.11:75502548:C:A,NC_000017.11:75502548:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75502549C>A, NC_000017.11:g.75502549C>T, NC_000017.10:g.73498630C>A, NC_000017.10:g.73498630C>T, NG_033152.1:g.18035G>T, NG_033152.1:g.18035G>A, NM_020753.5:c.2525G>T, NM_020753.5:c.2525G>A, NM_020753.4:c.2525G>T, NM_020753.4:c.2525G>A, NM_001142643.3:c.2279G>T, NM_001142643.3:c.2279G>A, NM_001142643.2:c.2279G>T, NM_001142643.2:c.2279G>A, XM_047436459.1:c.2525G>T, XM_047436459.1:c.2525G>A, NP_065804.2:p.Ser842Ile, NP_065804.2:p.Ser842Asn, NP_001136115.1:p.Ser760Ile, NP_001136115.1:p.Ser760Asn, XP_047292415.1:p.Ser842Ile, XP_047292415.1:p.Ser842Asn

Select item 148290799917.

rs1482907999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75502647 (GRCh38)
17:73498728 (GRCh37)
Canonical SPDI:: NC_000017.11:75502646:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.75502647C>T, NC_000017.10:g.73498728C>T, NG_033152.1:g.17937G>A, NM_020753.5:c.2427G>A, NM_020753.4:c.2427G>A, NM_001142643.3:c.2181G>A, NM_001142643.2:c.2181G>A, XM_047436459.1:c.2427G>A

Select item 148215457418.

rs1482154574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75504686 (GRCh38)
17:73500767 (GRCh37)
Canonical SPDI:: NC_000017.11:75504685:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.75504686G>A, NC_000017.10:g.73500767G>A, NG_033152.1:g.15898C>T, NM_020753.5:c.1200C>T, NM_020753.4:c.1200C>T, NM_001142643.3:c.954C>T, NM_001142643.2:c.954C>T, XM_047436459.1:c.1200C>T

Select item 148141848619.

rs1481418486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75501789 (GRCh38)
17:73497870 (GRCh37)
Canonical SPDI:: NC_000017.11:75501788:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.75501789C>T, NC_000017.10:g.73497870C>T, NG_054884.1:g.65631C>T, NG_033152.1:g.18795G>A, NM_020753.5:c.3285G>A, NM_020753.4:c.3285G>A, NM_001142643.3:c.3039G>A, NM_001142643.2:c.3039G>A, XM_047436459.1:c.3285G>A

Select item 148061119420.

rs1480611194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75503067 (GRCh38)
17:73499148 (GRCh37)
Canonical SPDI:: NC_000017.11:75503066:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75503067G>A, NC_000017.10:g.73499148G>A, NG_033152.1:g.17517C>T, NM_020753.5:c.2007C>T, NM_020753.4:c.2007C>T, NM_001142643.3:c.1761C>T, NM_001142643.2:c.1761C>T, XM_047436459.1:c.2007C>T

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