SNP Links for Protein (Select 1034559411) - SNP

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:112575171 (GRCh38)
1:113117793 (GRCh37)
Canonical SPDI:: NC_000001.11:112575170:G:A,NC_000001.11:112575170:G:T
Gene:: ST7L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00011/2 (ALFA)
T=0.00045/2 (Estonian)
HGVS:: NC_000001.11:g.112575171G>A, NC_000001.11:g.112575171G>T, NC_000001.10:g.113117793G>A, NC_000001.10:g.113117793G>T, XM_017001535.2:c.1308C>T, XM_017001535.2:c.1308C>A, XM_017001535.1:c.1308C>T, XM_017001535.1:c.1308C>A

Select item 14838455416.

rs1483845541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:112598073 (GRCh38)
1:113140695 (GRCh37)
Canonical SPDI:: NC_000001.11:112598072:T:A
Gene:: ST7L (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.112598073T>A, NC_000001.10:g.113140695T>A, NM_017744.5:c.520A>T, NM_017744.4:c.520A>T, NM_138727.4:c.469A>T, NM_138727.3:c.469A>T, XM_011541631.4:c.154A>T, XM_011541631.3:c.154A>T, XM_011541631.2:c.154A>T, XM_011541631.1:c.154A>T, NM_138729.4:c.520A>T, NM_138729.3:c.520A>T, XM_011541629.3:c.352A>T, XM_011541629.2:c.352A>T, XM_011541629.1:c.352A>T, NM_138728.3:c.520A>T, NM_138728.2:c.520A>T, XM_011541628.3:c.520A>T, XM_011541628.2:c.520A>T, XM_011541628.1:c.520A>T, XR_946675.3:n.548A>T, XR_946675.2:n.534A>T, XR_946675.1:n.540A>T, NM_001308264.2:c.-30A>T, NM_001308264.1:c.-30A>T, XM_017001535.2:c.520A>T, XM_017001535.1:c.520A>T, NM_198328.1:c.520A>T, NM_198327.1:c.520A>T, XM_047423368.1:c.154A>T, XM_047423341.1:c.520A>T, XM_047423372.1:c.154A>T, XM_047423358.1:c.154A>T, XM_047423352.1:c.154A>T, XM_047423374.1:c.-30A>T, NM_139196.1:c.*224A>T, XR_007061291.1:n.548A>T, XR_007061292.1:n.548A>T, XR_007061293.1:n.548A>T, XM_047423363.1:c.520A>T, NM_139195.1:c.*224A>T, XR_007061297.1:n.548A>T, XR_007061295.1:n.548A>T, XR_007061294.1:n.548A>T, XR_007061296.1:n.548A>T, XM_047423369.1:c.520A>T, XR_007061298.1:n.548A>T, NP_060214.2:p.Thr174Ser, NP_620055.1:p.Thr157Ser, XP_011539933.1:p.Thr52Ser, NP_620057.1:p.Thr174Ser, XP_011539931.1:p.Thr118Ser, NP_620056.1:p.Thr174Ser, XP_011539930.1:p.Thr174Ser, XP_016857024.1:p.Thr174Ser, XP_047279324.1:p.Thr52Ser, XP_047279297.1:p.Thr174Ser, XP_047279328.1:p.Thr52Ser, XP_047279314.1:p.Thr52Ser, XP_047279308.1:p.Thr52Ser, XP_047279319.1:p.Thr174Ser, XP_047279325.1:p.Thr174Ser

Select item 14833044457.

rs1483304445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:112577026 (GRCh38)
1:113119648 (GRCh37)
Canonical SPDI:: NC_000001.11:112577025:G:C
Gene:: ST7L (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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_000001.11:g.112577026G>C, NC_000001.10:g.113119648G>C, NM_017744.5:c.1205C>G, NM_017744.4:c.1205C>G, NM_138727.4:c.1154C>G, NM_138727.3:c.1154C>G, XM_011541631.4:c.839C>G, XM_011541631.3:c.839C>G, XM_011541631.2:c.839C>G, XM_011541631.1:c.839C>G, NM_138729.4:c.1205C>G, NM_138729.3:c.1205C>G, XM_011541629.3:c.1037C>G, XM_011541629.2:c.1037C>G, XM_011541629.1:c.1037C>G, NM_138728.3:c.1205C>G, NM_138728.2:c.1205C>G, XM_011541628.3:c.1205C>G, XM_011541628.2:c.1205C>G, XM_011541628.1:c.1205C>G, XR_946675.3:n.1233C>G, XR_946675.2:n.1219C>G, XR_946675.1:n.1225C>G, NM_001308264.2:c.656C>G, NM_001308264.1:c.656C>G, XM_017001535.2:c.1205C>G, XM_017001535.1:c.1205C>G, NM_198328.1:c.1205C>G, NM_198327.1:c.1205C>G, XM_047423368.1:c.839C>G, XM_047423341.1:c.1205C>G, XM_047423372.1:c.839C>G, XM_047423358.1:c.839C>G, XM_047423352.1:c.839C>G, XM_047423350.1:c.1034C>G, XM_047423351.1:c.1034C>G, XM_047423374.1:c.656C>G, XM_047423373.1:c.353C>G, NM_139196.1:c.*541C>G, XR_007061291.1:n.1233C>G, XR_007061292.1:n.1233C>G, XR_007061293.1:n.1233C>G, XM_047423363.1:c.1205C>G, NM_139195.1:c.*794C>G, XR_007061297.1:n.1303C>G, XR_007061295.1:n.1303C>G, XR_007061294.1:n.1303C>G, XR_007061296.1:n.1303C>G, XM_047423369.1:c.1205C>G, NP_060214.2:p.Ala402Gly, NP_620055.1:p.Ala385Gly, XP_011539933.1:p.Ala280Gly, NP_620057.1:p.Ala402Gly, XP_011539931.1:p.Ala346Gly, NP_620056.1:p.Ala402Gly, XP_011539930.1:p.Ala402Gly, NP_001295193.1:p.Ala219Gly, XP_016857024.1:p.Ala402Gly, XP_047279324.1:p.Ala280Gly, XP_047279297.1:p.Ala402Gly, XP_047279328.1:p.Ala280Gly, XP_047279314.1:p.Ala280Gly, XP_047279308.1:p.Ala280Gly, XP_047279306.1:p.Ala345Gly, XP_047279307.1:p.Ala345Gly, XP_047279330.1:p.Ala219Gly, XP_047279329.1:p.Ala118Gly, XP_047279319.1:p.Ala402Gly, XP_047279325.1:p.Ala402Gly

Select item 14832277058.

rs1483227705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:112582398 (GRCh38)
1:113125020 (GRCh37)
Canonical SPDI:: NC_000001.11:112582397:C:T
Gene:: ST7L (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.112582398C>T, NC_000001.10:g.113125020C>T, NM_017744.5:c.931G>A, NM_017744.4:c.931G>A, NM_138727.4:c.880G>A, NM_138727.3:c.880G>A, XM_011541631.4:c.565G>A, XM_011541631.3:c.565G>A, XM_011541631.2:c.565G>A, XM_011541631.1:c.565G>A, NM_138729.4:c.931G>A, NM_138729.3:c.931G>A, XM_011541629.3:c.763G>A, XM_011541629.2:c.763G>A, XM_011541629.1:c.763G>A, NM_138728.3:c.931G>A, NM_138728.2:c.931G>A, XM_011541628.3:c.931G>A, XM_011541628.2:c.931G>A, XM_011541628.1:c.931G>A, XR_946675.3:n.959G>A, XR_946675.2:n.945G>A, XR_946675.1:n.951G>A, NM_001308264.2:c.382G>A, NM_001308264.1:c.382G>A, XM_017001535.2:c.931G>A, XM_017001535.1:c.931G>A, NM_198328.1:c.931G>A, NM_198327.1:c.931G>A, XM_047423368.1:c.565G>A, XM_047423341.1:c.931G>A, XM_047423372.1:c.565G>A, XM_047423358.1:c.565G>A, XM_047423352.1:c.565G>A, XM_047423350.1:c.760G>A, XM_047423351.1:c.760G>A, XM_047423374.1:c.382G>A, XM_047423373.1:c.79G>A, XR_007061291.1:n.959G>A, XR_007061292.1:n.959G>A, XR_007061293.1:n.959G>A, XM_047423363.1:c.931G>A, NM_139195.1:c.*635G>A, XR_007061297.1:n.959G>A, XR_007061295.1:n.959G>A, XR_007061294.1:n.959G>A, XR_007061296.1:n.959G>A, XM_047423369.1:c.931G>A, XR_007061298.1:n.959G>A, NP_060214.2:p.Glu311Lys, NP_620055.1:p.Glu294Lys, XP_011539933.1:p.Glu189Lys, NP_620057.1:p.Glu311Lys, XP_011539931.1:p.Glu255Lys, NP_620056.1:p.Glu311Lys, XP_011539930.1:p.Glu311Lys, NP_001295193.1:p.Glu128Lys, XP_016857024.1:p.Glu311Lys, XP_047279324.1:p.Glu189Lys, XP_047279297.1:p.Glu311Lys, XP_047279328.1:p.Glu189Lys, XP_047279314.1:p.Glu189Lys, XP_047279308.1:p.Glu189Lys, XP_047279306.1:p.Glu254Lys, XP_047279307.1:p.Glu254Lys, XP_047279330.1:p.Glu128Lys, XP_047279329.1:p.Glu27Lys, XP_047279319.1:p.Glu311Lys, XP_047279325.1:p.Glu311Lys

Select item 14830050429.

rs1483005042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:112610988 (GRCh38)
1:113153610 (GRCh37)
Canonical SPDI:: NC_000001.11:112610987:A:G
Gene:: ST7L (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.112610988A>G, NC_000001.10:g.113153610A>G, NM_017744.5:c.304T>C, NM_017744.4:c.304T>C, NM_138727.4:c.253T>C, NM_138727.3:c.253T>C, XM_011541631.4:c.-63T>C, XM_011541631.3:c.-63T>C, XM_011541631.2:c.-63T>C, XM_011541631.1:c.-63T>C, NM_138729.4:c.304T>C, NM_138729.3:c.304T>C, XM_011541629.3:c.136T>C, XM_011541629.2:c.136T>C, XM_011541629.1:c.136T>C, NM_138728.3:c.304T>C, NM_138728.2:c.304T>C, XM_011541628.3:c.304T>C, XM_011541628.2:c.304T>C, XM_011541628.1:c.304T>C, XR_946675.3:n.332T>C, XR_946675.2:n.318T>C, XR_946675.1:n.324T>C, NM_001308264.2:c.-191T>C, NM_001308264.1:c.-191T>C, XM_017001535.2:c.304T>C, XM_017001535.1:c.304T>C, NM_198328.1:c.304T>C, NM_198327.1:c.304T>C, XM_047423368.1:c.-63T>C, XM_047423341.1:c.304T>C, XM_047423372.1:c.-63T>C, XM_047423358.1:c.-63T>C, XM_047423352.1:c.-63T>C, XM_047423350.1:c.304T>C, XM_047423351.1:c.304T>C, NM_139196.1:c.*8T>C, XR_007061291.1:n.332T>C, XR_007061292.1:n.332T>C, XR_007061293.1:n.332T>C, XM_047423363.1:c.304T>C, NM_139195.1:c.*8T>C, XR_007061297.1:n.332T>C, XR_007061295.1:n.332T>C, XR_007061294.1:n.332T>C, XR_007061296.1:n.332T>C, XM_047423369.1:c.304T>C, XR_007061298.1:n.332T>C, NP_060214.2:p.Tyr102His, NP_620055.1:p.Tyr85His, NP_620057.1:p.Tyr102His, XP_011539931.1:p.Tyr46His, NP_620056.1:p.Tyr102His, XP_011539930.1:p.Tyr102His, XP_016857024.1:p.Tyr102His, XP_047279297.1:p.Tyr102His, XP_047279306.1:p.Tyr102His, XP_047279307.1:p.Tyr102His, XP_047279319.1:p.Tyr102His, XP_047279325.1:p.Tyr102His

Select item 148222677210.

rs1482226772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:112575183 (GRCh38)
1:113117805 (GRCh37)
Canonical SPDI:: NC_000001.11:112575182:G:A
Gene:: ST7L (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_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_000001.11:g.112575183G>A, NC_000001.10:g.113117805G>A, XM_017001535.2:c.1296C>T, XM_017001535.1:c.1296C>T