SNP Links for Nucleotide (Select 229892196) - SNP - NCBI

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Links from Nucleotide

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Select item 14904723321.

rs1490472332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200573215 (GRCh38)
2:201437938 (GRCh37)
Canonical SPDI:: NC_000002.12:200573214:A:G
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200573215A>G, NC_000002.11:g.201437938A>G, NM_152524.6:c.2869A>G, NM_152524.5:c.2869A>G, XM_005246345.5:c.2869A>G, XM_005246345.4:c.2869A>G, XM_005246345.3:c.2869A>G, XM_005246345.2:c.2869A>G, XM_005246345.1:c.2869A>G, XM_005246344.5:c.2914A>G, XM_005246344.4:c.2914A>G, XM_005246344.3:c.2914A>G, XM_005246344.2:c.2914A>G, XM_005246344.1:c.2887A>G, XM_017003452.3:c.2959A>G, XM_017003452.2:c.2959A>G, XM_017003452.1:c.2959A>G, XM_017003454.3:c.2959A>G, XM_017003454.2:c.2959A>G, XM_017003454.1:c.2959A>G, XM_047443501.1:c.2959A>G, XM_047443503.1:c.2869A>G, NM_001160033.1:c.2869A>G, XM_047443502.1:c.2914A>G, NM_001160046.1:c.2869A>G, NP_689737.4:p.Ile957Val, XP_005246402.1:p.Ile957Val, XP_005246401.2:p.Ile972Val, XP_016858941.1:p.Ile987Val, XP_016858943.1:p.Ile987Val, XP_047299457.1:p.Ile987Val, XP_047299459.1:p.Ile957Val, NP_001153505.1:p.Ile957Val, XP_047299458.1:p.Ile972Val, NP_001153518.1:p.Ile957Val

Select item 14904371722.

rs1490437172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200571978 (GRCh38)
2:201436701 (GRCh37)
Canonical SPDI:: NC_000002.12:200571977:A:G
Gene:: SGO2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200571978A>G, NC_000002.11:g.201436701A>G, NM_152524.6:c.1632A>G, NM_152524.5:c.1632A>G, XM_005246345.5:c.1632A>G, XM_005246345.4:c.1632A>G, XM_005246345.3:c.1632A>G, XM_005246345.2:c.1632A>G, XM_005246345.1:c.1632A>G, XM_005246344.5:c.1677A>G, XM_005246344.4:c.1677A>G, XM_005246344.3:c.1677A>G, XM_005246344.2:c.1677A>G, XM_005246344.1:c.1650A>G, XM_017003452.3:c.1722A>G, XM_017003452.2:c.1722A>G, XM_017003452.1:c.1722A>G, XM_017003454.3:c.1722A>G, XM_017003454.2:c.1722A>G, XM_017003454.1:c.1722A>G, XM_047443501.1:c.1722A>G, XM_047443503.1:c.1632A>G, NM_001160033.1:c.1632A>G, XM_047443502.1:c.1677A>G, NM_001160046.1:c.1632A>G

Select item 14899566133.

rs1489956613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:200571376 (GRCh38)
2:201436099 (GRCh37)
Canonical SPDI:: NC_000002.12:200571375:T:C
Gene:: SGO2 (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_000002.12:g.200571376T>C, NC_000002.11:g.201436099T>C, NM_152524.6:c.1030T>C, NM_152524.5:c.1030T>C, XM_005246345.5:c.1030T>C, XM_005246345.4:c.1030T>C, XM_005246345.3:c.1030T>C, XM_005246345.2:c.1030T>C, XM_005246345.1:c.1030T>C, XM_005246344.5:c.1075T>C, XM_005246344.4:c.1075T>C, XM_005246344.3:c.1075T>C, XM_005246344.2:c.1075T>C, XM_005246344.1:c.1048T>C, XM_017003452.3:c.1120T>C, XM_017003452.2:c.1120T>C, XM_017003452.1:c.1120T>C, XM_017003454.3:c.1120T>C, XM_017003454.2:c.1120T>C, XM_017003454.1:c.1120T>C, XM_047443501.1:c.1120T>C, XM_047443503.1:c.1030T>C, NM_001160033.1:c.1030T>C, XM_047443502.1:c.1075T>C, NM_001160046.1:c.1030T>C, NP_689737.4:p.Cys344Arg, XP_005246402.1:p.Cys344Arg, XP_005246401.2:p.Cys359Arg, XP_016858941.1:p.Cys374Arg, XP_016858943.1:p.Cys374Arg, XP_047299457.1:p.Cys374Arg, XP_047299459.1:p.Cys344Arg, NP_001153505.1:p.Cys344Arg, XP_047299458.1:p.Cys359Arg, NP_001153518.1:p.Cys344Arg

Select item 14887195384.

rs1488719538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:200571774 (GRCh38)
2:201436497 (GRCh37)
Canonical SPDI:: NC_000002.12:200571773:A:C
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200571774A>C, NC_000002.11:g.201436497A>C, NM_152524.6:c.1428A>C, NM_152524.5:c.1428A>C, XM_005246345.5:c.1428A>C, XM_005246345.4:c.1428A>C, XM_005246345.3:c.1428A>C, XM_005246345.2:c.1428A>C, XM_005246345.1:c.1428A>C, XM_005246344.5:c.1473A>C, XM_005246344.4:c.1473A>C, XM_005246344.3:c.1473A>C, XM_005246344.2:c.1473A>C, XM_005246344.1:c.1446A>C, XM_017003452.3:c.1518A>C, XM_017003452.2:c.1518A>C, XM_017003452.1:c.1518A>C, XM_017003454.3:c.1518A>C, XM_017003454.2:c.1518A>C, XM_017003454.1:c.1518A>C, XM_047443501.1:c.1518A>C, XM_047443503.1:c.1428A>C, NM_001160033.1:c.1428A>C, XM_047443502.1:c.1473A>C, NM_001160046.1:c.1428A>C, NP_689737.4:p.Gln476His, XP_005246402.1:p.Gln476His, XP_005246401.2:p.Gln491His, XP_016858941.1:p.Gln506His, XP_016858943.1:p.Gln506His, XP_047299457.1:p.Gln506His, XP_047299459.1:p.Gln476His, NP_001153505.1:p.Gln476His, XP_047299458.1:p.Gln491His, NP_001153518.1:p.Gln476His

Select item 14882179035.

rs1488217903 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGTATATA [Show Flanks]
Chromosome:: 2:200575443 (GRCh38)
2:201440167 (GRCh37)
Canonical SPDI:: NC_000002.12:200575443:A:AAAGTATATA
Gene:: SGO2 (Varview)
Functional Consequence:: stop_gained,inframe_insertion,coding_sequence_variant
HGVS:: NC_000002.12:g.200575444_200575445insAAGTATATA, NC_000002.11:g.201440167_201440168insAAGTATATA, NM_152524.6:c.3765_3766insAAGTATATA, NM_152524.5:c.3765_3766insAAGTATATA, XM_005246345.5:c.3765_3766insAAGTATATA, XM_005246345.4:c.3765_3766insAAGTATATA, XM_005246345.3:c.3765_3766insAAGTATATA, XM_005246345.2:c.3765_3766insAAGTATATA, XM_005246345.1:c.3765_3766insAAGTATATA, XM_005246344.5:c.3810_3811insAAGTATATA, XM_005246344.4:c.3810_3811insAAGTATATA, XM_005246344.3:c.3810_3811insAAGTATATA, XM_005246344.2:c.3810_3811insAAGTATATA, XM_005246344.1:c.3783_3784insAAGTATATA, XM_017003452.3:c.3855_3856insAAGTATATA, XM_017003452.2:c.3855_3856insAAGTATATA, XM_017003452.1:c.3855_3856insAAGTATATA, XM_017003454.3:c.3855_3856insAAGTATATA, XM_017003454.2:c.3855_3856insAAGTATATA, XM_017003454.1:c.3855_3856insAAGTATATA, XM_047443501.1:c.3855_3856insAAGTATATA, XM_047443503.1:c.3765_3766insAAGTATATA, NM_001160033.1:c.3758_3759insAAGTATATA, XM_047443502.1:c.3810_3811insAAGTATATA, NM_001160046.1:c.3765_3766insAAGTATATA, NP_689737.4:p.Glu1256_Pro1257insLysTyrIle, XP_005246402.1:p.Glu1256_Pro1257insLysTyrIle, XP_005246401.2:p.Glu1271_Pro1272insLysTyrIle, XP_016858941.1:p.Glu1286_Pro1287insLysTyrIle, XP_016858943.1:p.Glu1286_Pro1287insLysTyrIle, XP_047299457.1:p.Glu1286_Pro1287insLysTyrIle, XP_047299459.1:p.Glu1256_Pro1257insLysTyrIle, NP_001153505.1:p.Gln1255_Ala1256insIleTerSer, XP_047299458.1:p.Glu1271_Pro1272insLysTyrIle, NP_001153518.1:p.Glu1256_Pro1257insLysTyrIle

Select item 14875748016.

rs1487574801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:200526196 (GRCh38)
2:201390919 (GRCh37)
Canonical SPDI:: NC_000002.12:200526195:C:A,NC_000002.12:200526195:C:G,NC_000002.12:200526195:C:T
Gene:: SGO2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000002.12:g.200526196C>A, NC_000002.12:g.200526196C>G, NC_000002.12:g.200526196C>T, NC_000002.11:g.201390919C>A, NC_000002.11:g.201390919C>G, NC_000002.11:g.201390919C>T, XM_005246345.5:c.-185C>A, XM_005246345.5:c.-185C>G, XM_005246345.5:c.-185C>T, XM_005246345.4:c.-185C>A, XM_005246345.4:c.-185C>G, XM_005246345.4:c.-185C>T, XM_005246345.3:c.-185C>A, XM_005246345.3:c.-185C>G, XM_005246345.3:c.-185C>T, XM_005246344.5:c.-67C>A, XM_005246344.5:c.-67C>G, XM_005246344.5:c.-67C>T, XM_005246344.4:c.-67C>A, XM_005246344.4:c.-67C>G, XM_005246344.4:c.-67C>T, XM_005246344.3:c.-67C>A, XM_005246344.3:c.-67C>G, XM_005246344.3:c.-67C>T, NM_152524.5:c.-59C>A, NM_152524.5:c.-59C>G, NM_152524.5:c.-59C>T, XM_017003452.3:c.-148C>A, XM_017003452.3:c.-148C>G, XM_017003452.3:c.-148C>T, XM_017003452.2:c.-148C>A, XM_017003452.2:c.-148C>G, XM_017003452.2:c.-148C>T, XM_017003452.1:c.-148C>A, XM_017003452.1:c.-148C>G, XM_017003452.1:c.-148C>T, XM_017003454.3:c.-148C>A, XM_017003454.3:c.-148C>G, XM_017003454.3:c.-148C>T, XM_017003454.2:c.-148C>A, XM_017003454.2:c.-148C>G, XM_017003454.2:c.-148C>T, XM_017003454.1:c.-148C>A, XM_017003454.1:c.-148C>G, XM_017003454.1:c.-148C>T, NM_001160033.1:c.-59C>A, NM_001160033.1:c.-59C>G, NM_001160033.1:c.-59C>T, XM_047443502.1:c.-67C>A, XM_047443502.1:c.-67C>G, XM_047443502.1:c.-67C>T, NM_001160046.1:c.-59C>A, NM_001160046.1:c.-59C>G, NM_001160046.1:c.-59C>T

Select item 14864457377.

rs1486445737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:200573447 (GRCh38)
2:201438170 (GRCh37)
Canonical SPDI:: NC_000002.12:200573446:C:A,NC_000002.12:200573446:C:T
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.200573447C>A, NC_000002.12:g.200573447C>T, NC_000002.11:g.201438170C>A, NC_000002.11:g.201438170C>T, NM_152524.6:c.3101C>A, NM_152524.6:c.3101C>T, NM_152524.5:c.3101C>A, NM_152524.5:c.3101C>T, XM_005246345.5:c.3101C>A, XM_005246345.5:c.3101C>T, XM_005246345.4:c.3101C>A, XM_005246345.4:c.3101C>T, XM_005246345.3:c.3101C>A, XM_005246345.3:c.3101C>T, XM_005246345.2:c.3101C>A, XM_005246345.2:c.3101C>T, XM_005246345.1:c.3101C>A, XM_005246345.1:c.3101C>T, XM_005246344.5:c.3146C>A, XM_005246344.5:c.3146C>T, XM_005246344.4:c.3146C>A, XM_005246344.4:c.3146C>T, XM_005246344.3:c.3146C>A, XM_005246344.3:c.3146C>T, XM_005246344.2:c.3146C>A, XM_005246344.2:c.3146C>T, XM_005246344.1:c.3119C>A, XM_005246344.1:c.3119C>T, XM_017003452.3:c.3191C>A, XM_017003452.3:c.3191C>T, XM_017003452.2:c.3191C>A, XM_017003452.2:c.3191C>T, XM_017003452.1:c.3191C>A, XM_017003452.1:c.3191C>T, XM_017003454.3:c.3191C>A, XM_017003454.3:c.3191C>T, XM_017003454.2:c.3191C>A, XM_017003454.2:c.3191C>T, XM_017003454.1:c.3191C>A, XM_017003454.1:c.3191C>T, XM_047443501.1:c.3191C>A, XM_047443501.1:c.3191C>T, XM_047443503.1:c.3101C>A, XM_047443503.1:c.3101C>T, NM_001160033.1:c.3101C>A, NM_001160033.1:c.3101C>T, XM_047443502.1:c.3146C>A, XM_047443502.1:c.3146C>T, NM_001160046.1:c.3101C>A, NM_001160046.1:c.3101C>T, NP_689737.4:p.Pro1034Gln, NP_689737.4:p.Pro1034Leu, XP_005246402.1:p.Pro1034Gln, XP_005246402.1:p.Pro1034Leu, XP_005246401.2:p.Pro1049Gln, XP_005246401.2:p.Pro1049Leu, XP_016858941.1:p.Pro1064Gln, XP_016858941.1:p.Pro1064Leu, XP_016858943.1:p.Pro1064Gln, XP_016858943.1:p.Pro1064Leu, XP_047299457.1:p.Pro1064Gln, XP_047299457.1:p.Pro1064Leu, XP_047299459.1:p.Pro1034Gln, XP_047299459.1:p.Pro1034Leu, NP_001153505.1:p.Pro1034Gln, NP_001153505.1:p.Pro1034Leu, XP_047299458.1:p.Pro1049Gln, XP_047299458.1:p.Pro1049Leu, NP_001153518.1:p.Pro1034Gln, NP_001153518.1:p.Pro1034Leu

Select item 14862437958.

rs1486243795 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:200569867 (GRCh38)
2:201434591 (GRCh37)
Canonical SPDI:: NC_000002.12:200569867::C
Gene:: SGO2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.200569867_200569868insC, NC_000002.11:g.201434590_201434591insC, NM_152524.6:c.678_679insC, NM_152524.5:c.678_679insC, XM_005246345.5:c.678_679insC, XM_005246345.4:c.678_679insC, XM_005246345.3:c.678_679insC, XM_005246345.2:c.678_679insC, XM_005246345.1:c.678_679insC, XM_005246344.5:c.723_724insC, XM_005246344.4:c.723_724insC, XM_005246344.3:c.723_724insC, XM_005246344.2:c.723_724insC, XM_005246344.1:c.696_697insC, XM_017003452.3:c.768_769insC, XM_017003452.2:c.768_769insC, XM_017003452.1:c.768_769insC, XM_017003454.3:c.768_769insC, XM_017003454.2:c.768_769insC, XM_017003454.1:c.768_769insC, XM_047443501.1:c.768_769insC, XM_047443503.1:c.678_679insC, NM_001160033.1:c.678_679insC, XM_047443502.1:c.723_724insC, NM_001160046.1:c.678_679insC, NP_689737.4:p.Ser227fs, XP_005246402.1:p.Ser227fs, XP_005246401.2:p.Ser242fs, XP_016858941.1:p.Ser257fs, XP_016858943.1:p.Ser257fs, XP_047299457.1:p.Ser257fs, XP_047299459.1:p.Ser227fs, NP_001153505.1:p.Ser227fs, XP_047299458.1:p.Ser242fs, NP_001153518.1:p.Ser227fs

Select item 14856377269.

rs1485637726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200572608 (GRCh38)
2:201437331 (GRCh37)
Canonical SPDI:: NC_000002.12:200572607:C:T
Gene:: SGO2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200572608C>T, NC_000002.11:g.201437331C>T, NM_152524.6:c.2262C>T, NM_152524.5:c.2262C>T, XM_005246345.5:c.2262C>T, XM_005246345.4:c.2262C>T, XM_005246345.3:c.2262C>T, XM_005246345.2:c.2262C>T, XM_005246345.1:c.2262C>T, XM_005246344.5:c.2307C>T, XM_005246344.4:c.2307C>T, XM_005246344.3:c.2307C>T, XM_005246344.2:c.2307C>T, XM_005246344.1:c.2280C>T, XM_017003452.3:c.2352C>T, XM_017003452.2:c.2352C>T, XM_017003452.1:c.2352C>T, XM_017003454.3:c.2352C>T, XM_017003454.2:c.2352C>T, XM_017003454.1:c.2352C>T, XM_047443501.1:c.2352C>T, XM_047443503.1:c.2262C>T, NM_001160033.1:c.2262C>T, XM_047443502.1:c.2307C>T, NM_001160046.1:c.2262C>T

Select item 148517337110.

rs1485173371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:200572324 (GRCh38)
2:201437047 (GRCh37)
Canonical SPDI:: NC_000002.12:200572323:A:C
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.200572324A>C, NC_000002.11:g.201437047A>C, NM_152524.6:c.1978A>C, NM_152524.5:c.1978A>C, XM_005246345.5:c.1978A>C, XM_005246345.4:c.1978A>C, XM_005246345.3:c.1978A>C, XM_005246345.2:c.1978A>C, XM_005246345.1:c.1978A>C, XM_005246344.5:c.2023A>C, XM_005246344.4:c.2023A>C, XM_005246344.3:c.2023A>C, XM_005246344.2:c.2023A>C, XM_005246344.1:c.1996A>C, XM_017003452.3:c.2068A>C, XM_017003452.2:c.2068A>C, XM_017003452.1:c.2068A>C, XM_017003454.3:c.2068A>C, XM_017003454.2:c.2068A>C, XM_017003454.1:c.2068A>C, XM_047443501.1:c.2068A>C, XM_047443503.1:c.1978A>C, NM_001160033.1:c.1978A>C, XM_047443502.1:c.2023A>C, NM_001160046.1:c.1978A>C, NP_689737.4:p.Asn660His, XP_005246402.1:p.Asn660His, XP_005246401.2:p.Asn675His, XP_016858941.1:p.Asn690His, XP_016858943.1:p.Asn690His, XP_047299457.1:p.Asn690His, XP_047299459.1:p.Asn660His, NP_001153505.1:p.Asn660His, XP_047299458.1:p.Asn675His, NP_001153518.1:p.Asn660His

Select item 148512152811.

rs1485121528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:200571377 (GRCh38)
2:201436100 (GRCh37)
Canonical SPDI:: NC_000002.12:200571376:G:A
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.200571377G>A, NC_000002.11:g.201436100G>A, NM_152524.6:c.1031G>A, NM_152524.5:c.1031G>A, XM_005246345.5:c.1031G>A, XM_005246345.4:c.1031G>A, XM_005246345.3:c.1031G>A, XM_005246345.2:c.1031G>A, XM_005246345.1:c.1031G>A, XM_005246344.5:c.1076G>A, XM_005246344.4:c.1076G>A, XM_005246344.3:c.1076G>A, XM_005246344.2:c.1076G>A, XM_005246344.1:c.1049G>A, XM_017003452.3:c.1121G>A, XM_017003452.2:c.1121G>A, XM_017003452.1:c.1121G>A, XM_017003454.3:c.1121G>A, XM_017003454.2:c.1121G>A, XM_017003454.1:c.1121G>A, XM_047443501.1:c.1121G>A, XM_047443503.1:c.1031G>A, NM_001160033.1:c.1031G>A, XM_047443502.1:c.1076G>A, NM_001160046.1:c.1031G>A, NP_689737.4:p.Cys344Tyr, XP_005246402.1:p.Cys344Tyr, XP_005246401.2:p.Cys359Tyr, XP_016858941.1:p.Cys374Tyr, XP_016858943.1:p.Cys374Tyr, XP_047299457.1:p.Cys374Tyr, XP_047299459.1:p.Cys344Tyr, NP_001153505.1:p.Cys344Tyr, XP_047299458.1:p.Cys359Tyr, NP_001153518.1:p.Cys344Tyr

Select item 148409172112.

rs1484091721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200575446 (GRCh38)
2:201440169 (GRCh37)
Canonical SPDI:: NC_000002.12:200575445:A:G
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.200575446A>G, NC_000002.11:g.201440169A>G, NM_152524.6:c.3767A>G, NM_152524.5:c.3767A>G, XM_005246345.5:c.3767A>G, XM_005246345.4:c.3767A>G, XM_005246345.3:c.3767A>G, XM_005246345.2:c.3767A>G, XM_005246345.1:c.3767A>G, XM_005246344.5:c.3812A>G, XM_005246344.4:c.3812A>G, XM_005246344.3:c.3812A>G, XM_005246344.2:c.3812A>G, XM_005246344.1:c.3785A>G, XM_017003452.3:c.3857A>G, XM_017003452.2:c.3857A>G, XM_017003452.1:c.3857A>G, XM_017003454.3:c.3857A>G, XM_017003454.2:c.3857A>G, XM_017003454.1:c.3857A>G, XM_047443501.1:c.3857A>G, XM_047443503.1:c.3767A>G, NM_001160033.1:c.3760A>G, XM_047443502.1:c.3812A>G, NM_001160046.1:c.3767A>G, NP_689737.4:p.Glu1256Gly, XP_005246402.1:p.Glu1256Gly, XP_005246401.2:p.Glu1271Gly, XP_016858941.1:p.Glu1286Gly, XP_016858943.1:p.Glu1286Gly, XP_047299457.1:p.Glu1286Gly, XP_047299459.1:p.Glu1256Gly, NP_001153505.1:p.Ser1254Gly, XP_047299458.1:p.Glu1271Gly, NP_001153518.1:p.Glu1256Gly

Select item 148259749413.

rs1482597494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200573632 (GRCh38)
2:201438355 (GRCh37)
Canonical SPDI:: NC_000002.12:200573631:A:G
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.200573632A>G, NC_000002.11:g.201438355A>G, NM_152524.6:c.3286A>G, NM_152524.5:c.3286A>G, XM_005246345.5:c.3286A>G, XM_005246345.4:c.3286A>G, XM_005246345.3:c.3286A>G, XM_005246345.2:c.3286A>G, XM_005246345.1:c.3286A>G, XM_005246344.5:c.3331A>G, XM_005246344.4:c.3331A>G, XM_005246344.3:c.3331A>G, XM_005246344.2:c.3331A>G, XM_005246344.1:c.3304A>G, XM_017003452.3:c.3376A>G, XM_017003452.2:c.3376A>G, XM_017003452.1:c.3376A>G, XM_017003454.3:c.3376A>G, XM_017003454.2:c.3376A>G, XM_017003454.1:c.3376A>G, XM_047443501.1:c.3376A>G, XM_047443503.1:c.3286A>G, NM_001160033.1:c.3286A>G, XM_047443502.1:c.3331A>G, NM_001160046.1:c.3286A>G, NP_689737.4:p.Met1096Val, XP_005246402.1:p.Met1096Val, XP_005246401.2:p.Met1111Val, XP_016858941.1:p.Met1126Val, XP_016858943.1:p.Met1126Val, XP_047299457.1:p.Met1126Val, XP_047299459.1:p.Met1096Val, NP_001153505.1:p.Met1096Val, XP_047299458.1:p.Met1111Val, NP_001153518.1:p.Met1096Val

Select item 148218183814.

rs1482181838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:200535114 (GRCh38)
2:201399837 (GRCh37)
Canonical SPDI:: NC_000002.12:200535113:A:T
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200535114A>T, NC_000002.11:g.201399837A>T, NM_152524.6:c.252A>T, NM_152524.5:c.252A>T, XM_005246345.5:c.252A>T, XM_005246345.4:c.252A>T, XM_005246345.3:c.252A>T, XM_005246345.2:c.252A>T, XM_005246345.1:c.252A>T, XM_005246344.5:c.297A>T, XM_005246344.4:c.297A>T, XM_005246344.3:c.297A>T, XM_005246344.2:c.297A>T, XM_005246344.1:c.270A>T, XM_017003452.3:c.342A>T, XM_017003452.2:c.342A>T, XM_017003452.1:c.342A>T, XM_017003454.3:c.342A>T, XM_017003454.2:c.342A>T, XM_017003454.1:c.342A>T, XM_047443501.1:c.342A>T, XM_047443503.1:c.252A>T, NM_001160033.1:c.252A>T, XM_047443502.1:c.297A>T, NM_001160046.1:c.252A>T, NP_689737.4:p.Lys84Asn, XP_005246402.1:p.Lys84Asn, XP_005246401.2:p.Lys99Asn, XP_016858941.1:p.Lys114Asn, XP_016858943.1:p.Lys114Asn, XP_047299457.1:p.Lys114Asn, XP_047299459.1:p.Lys84Asn, NP_001153505.1:p.Lys84Asn, XP_047299458.1:p.Lys99Asn, NP_001153518.1:p.Lys84Asn

Select item 147981888715.

rs1479818887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:200580636 (GRCh38)
2:201445359 (GRCh37)
Canonical SPDI:: NC_000002.12:200580635:A:G
Gene:: SGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200580636A>G, NC_000002.11:g.201445359A>G, XM_017003454.3:c.*98A>G, XM_047443502.1:c.*98A>G, NM_001160046.1:c.*98A>G

Select item 147965023916.

rs1479650239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:200572759 (GRCh38)
2:201437482 (GRCh37)
Canonical SPDI:: NC_000002.12:200572758:G:A
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.200572759G>A, NC_000002.11:g.201437482G>A, NM_152524.6:c.2413G>A, NM_152524.5:c.2413G>A, XM_005246345.5:c.2413G>A, XM_005246345.4:c.2413G>A, XM_005246345.3:c.2413G>A, XM_005246345.2:c.2413G>A, XM_005246345.1:c.2413G>A, XM_005246344.5:c.2458G>A, XM_005246344.4:c.2458G>A, XM_005246344.3:c.2458G>A, XM_005246344.2:c.2458G>A, XM_005246344.1:c.2431G>A, XM_017003452.3:c.2503G>A, XM_017003452.2:c.2503G>A, XM_017003452.1:c.2503G>A, XM_017003454.3:c.2503G>A, XM_017003454.2:c.2503G>A, XM_017003454.1:c.2503G>A, XM_047443501.1:c.2503G>A, XM_047443503.1:c.2413G>A, NM_001160033.1:c.2413G>A, XM_047443502.1:c.2458G>A, NM_001160046.1:c.2413G>A, NP_689737.4:p.Gly805Ser, XP_005246402.1:p.Gly805Ser, XP_005246401.2:p.Gly820Ser, XP_016858941.1:p.Gly835Ser, XP_016858943.1:p.Gly835Ser, XP_047299457.1:p.Gly835Ser, XP_047299459.1:p.Gly805Ser, NP_001153505.1:p.Gly805Ser, XP_047299458.1:p.Gly820Ser, NP_001153518.1:p.Gly805Ser

Select item 147835166217.

rs1478351662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:200572616 (GRCh38)
2:201437339 (GRCh37)
Canonical SPDI:: NC_000002.12:200572615:A:T
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200572616A>T, NC_000002.11:g.201437339A>T, NM_152524.6:c.2270A>T, NM_152524.5:c.2270A>T, XM_005246345.5:c.2270A>T, XM_005246345.4:c.2270A>T, XM_005246345.3:c.2270A>T, XM_005246345.2:c.2270A>T, XM_005246345.1:c.2270A>T, XM_005246344.5:c.2315A>T, XM_005246344.4:c.2315A>T, XM_005246344.3:c.2315A>T, XM_005246344.2:c.2315A>T, XM_005246344.1:c.2288A>T, XM_017003452.3:c.2360A>T, XM_017003452.2:c.2360A>T, XM_017003452.1:c.2360A>T, XM_017003454.3:c.2360A>T, XM_017003454.2:c.2360A>T, XM_017003454.1:c.2360A>T, XM_047443501.1:c.2360A>T, XM_047443503.1:c.2270A>T, NM_001160033.1:c.2270A>T, XM_047443502.1:c.2315A>T, NM_001160046.1:c.2270A>T, NP_689737.4:p.Asn757Ile, XP_005246402.1:p.Asn757Ile, XP_005246401.2:p.Asn772Ile, XP_016858941.1:p.Asn787Ile, XP_016858943.1:p.Asn787Ile, XP_047299457.1:p.Asn787Ile, XP_047299459.1:p.Asn757Ile, NP_001153505.1:p.Asn757Ile, XP_047299458.1:p.Asn772Ile, NP_001153518.1:p.Asn757Ile

Select item 147799892318.

rs1477998923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:200569890 (GRCh38)
2:201434613 (GRCh37)
Canonical SPDI:: NC_000002.12:200569889:G:A
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200569890G>A, NC_000002.11:g.201434613G>A, NM_152524.6:c.701G>A, NM_152524.5:c.701G>A, XM_005246345.5:c.701G>A, XM_005246345.4:c.701G>A, XM_005246345.3:c.701G>A, XM_005246345.2:c.701G>A, XM_005246345.1:c.701G>A, XM_005246344.5:c.746G>A, XM_005246344.4:c.746G>A, XM_005246344.3:c.746G>A, XM_005246344.2:c.746G>A, XM_005246344.1:c.719G>A, XM_017003452.3:c.791G>A, XM_017003452.2:c.791G>A, XM_017003452.1:c.791G>A, XM_017003454.3:c.791G>A, XM_017003454.2:c.791G>A, XM_017003454.1:c.791G>A, XM_047443501.1:c.791G>A, XM_047443503.1:c.701G>A, NM_001160033.1:c.701G>A, XM_047443502.1:c.746G>A, NM_001160046.1:c.701G>A, NP_689737.4:p.Arg234Lys, XP_005246402.1:p.Arg234Lys, XP_005246401.2:p.Arg249Lys, XP_016858941.1:p.Arg264Lys, XP_016858943.1:p.Arg264Lys, XP_047299457.1:p.Arg264Lys, XP_047299459.1:p.Arg234Lys, NP_001153505.1:p.Arg234Lys, XP_047299458.1:p.Arg249Lys, NP_001153518.1:p.Arg234Lys

Select item 147796747919.

rs1477967479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200571116 (GRCh38)
2:201435839 (GRCh37)
Canonical SPDI:: NC_000002.12:200571115:C:T
Gene:: SGO2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200571116C>T, NC_000002.11:g.201435839C>T, NM_152524.6:c.770C>T, NM_152524.5:c.770C>T, XM_005246345.5:c.770C>T, XM_005246345.4:c.770C>T, XM_005246345.3:c.770C>T, XM_005246345.2:c.770C>T, XM_005246345.1:c.770C>T, XM_005246344.5:c.815C>T, XM_005246344.4:c.815C>T, XM_005246344.3:c.815C>T, XM_005246344.2:c.815C>T, XM_005246344.1:c.788C>T, XM_017003452.3:c.860C>T, XM_017003452.2:c.860C>T, XM_017003452.1:c.860C>T, XM_017003454.3:c.860C>T, XM_017003454.2:c.860C>T, XM_017003454.1:c.860C>T, XM_047443501.1:c.860C>T, XM_047443503.1:c.770C>T, NM_001160033.1:c.770C>T, XM_047443502.1:c.815C>T, NM_001160046.1:c.770C>T, NP_689737.4:p.Ser257Phe, XP_005246402.1:p.Ser257Phe, XP_005246401.2:p.Ser272Phe, XP_016858941.1:p.Ser287Phe, XP_016858943.1:p.Ser287Phe, XP_047299457.1:p.Ser287Phe, XP_047299459.1:p.Ser257Phe, NP_001153505.1:p.Ser257Phe, XP_047299458.1:p.Ser272Phe, NP_001153518.1:p.Ser257Phe

Select item 147791555920.

rs1477915559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:200535144 (GRCh38)
2:201399867 (GRCh37)
Canonical SPDI:: NC_000002.12:200535143:A:G,NC_000002.12:200535143:A:T
Gene:: SGO2 (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_000002.12:g.200535144A>G, NC_000002.12:g.200535144A>T, NC_000002.11:g.201399867A>G, NC_000002.11:g.201399867A>T, NM_152524.6:c.282A>G, NM_152524.6:c.282A>T, NM_152524.5:c.282A>G, NM_152524.5:c.282A>T, XM_005246345.5:c.282A>G, XM_005246345.5:c.282A>T, XM_005246345.4:c.282A>G, XM_005246345.4:c.282A>T, XM_005246345.3:c.282A>G, XM_005246345.3:c.282A>T, XM_005246345.2:c.282A>G, XM_005246345.2:c.282A>T, XM_005246345.1:c.282A>G, XM_005246345.1:c.282A>T, XM_005246344.5:c.327A>G, XM_005246344.5:c.327A>T, XM_005246344.4:c.327A>G, XM_005246344.4:c.327A>T, XM_005246344.3:c.327A>G, XM_005246344.3:c.327A>T, XM_005246344.2:c.327A>G, XM_005246344.2:c.327A>T, XM_005246344.1:c.300A>G, XM_005246344.1:c.300A>T, XM_017003452.3:c.372A>G, XM_017003452.3:c.372A>T, XM_017003452.2:c.372A>G, XM_017003452.2:c.372A>T, XM_017003452.1:c.372A>G, XM_017003452.1:c.372A>T, XM_017003454.3:c.372A>G, XM_017003454.3:c.372A>T, XM_017003454.2:c.372A>G, XM_017003454.2:c.372A>T, XM_017003454.1:c.372A>G, XM_017003454.1:c.372A>T, XM_047443501.1:c.372A>G, XM_047443501.1:c.372A>T, XM_047443503.1:c.282A>G, XM_047443503.1:c.282A>T, NM_001160033.1:c.282A>G, NM_001160033.1:c.282A>T, XM_047443502.1:c.327A>G, XM_047443502.1:c.327A>T, NM_001160046.1:c.282A>G, NM_001160046.1:c.282A>T

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