SNP Links for Protein (Select 308199419) - SNP

Links from Protein

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Select item 14894306051.

rs1489430605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:159245859 (GRCh38)
3:158963648 (GRCh37)
Canonical SPDI:: NC_000003.12:159245858:T:G
Gene:: IQCJ (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.159245859T>G, NC_000003.11:g.158963648T>G, NM_001042705.3:c.26T>G, NM_001042705.2:c.26T>G, NM_001042706.3:c.26T>G, NM_001042706.2:c.26T>G, NM_001197113.2:c.26T>G, NM_001197113.1:c.26T>G, NM_001197114.2:c.26T>G, NM_001197114.1:c.26T>G, NM_001197100.2:c.26T>G, NM_001197100.1:c.26T>G, NP_001036170.1:p.Leu9Trp, NP_001036171.1:p.Leu9Trp, NP_001184042.1:p.Leu9Trp, NP_001184043.1:p.Leu9Trp, NP_001184029.1:p.Leu9Trp

Select item 14884649362.

rs1488464936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:159764610 (GRCh38)
3:159482399 (GRCh37)
Canonical SPDI:: NC_000003.12:159764609:T:C
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.159764610T>C, NC_000003.11:g.159482399T>C, NM_014575.4:c.231T>C, NM_014575.3:c.231T>C, NM_001197107.2:c.231T>C, NM_001197107.1:c.231T>C, NM_001197113.2:c.459T>C, NM_001197113.1:c.459T>C, NM_001197114.2:c.378T>C, NM_001197114.1:c.378T>C, NM_001394283.1:c.150T>C, NM_001394289.1:c.150T>C, NM_001394291.1:c.150T>C, NM_001394284.1:c.150T>C, NM_001394286.1:c.150T>C, NM_001394288.1:c.150T>C, NM_001394290.1:c.150T>C, NM_001394282.1:c.150T>C, NM_001394285.1:c.150T>C, NM_001394287.1:c.150T>C, NM_001394293.1:c.150T>C, NM_001394292.1:c.150T>C

Select item 14864412093.

rs1486441209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:159765075 (GRCh38)
3:159482864 (GRCh37)
Canonical SPDI:: NC_000003.12:159765074:C:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.159765075C>T, NC_000003.11:g.159482864C>T, NM_014575.4:c.696C>T, NM_014575.3:c.696C>T, NM_001197107.2:c.696C>T, NM_001197107.1:c.696C>T, NM_001197113.2:c.924C>T, NM_001197113.1:c.924C>T, NM_001197114.2:c.843C>T, NM_001197114.1:c.843C>T, NM_001394283.1:c.615C>T, NM_001394289.1:c.615C>T, NM_001394291.1:c.615C>T, NM_001394284.1:c.615C>T, NM_001394286.1:c.615C>T, NM_001394288.1:c.615C>T, NM_001394290.1:c.615C>T, NM_001394282.1:c.615C>T, NM_001394285.1:c.615C>T, NM_001394287.1:c.615C>T, NM_001394293.1:c.615C>T, NM_001394292.1:c.615C>T

Select item 14855065504.

rs1485506550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:159764624 (GRCh38)
3:159482413 (GRCh37)
Canonical SPDI:: NC_000003.12:159764623:C:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.159764624C>T, NC_000003.11:g.159482413C>T, NM_014575.4:c.245C>T, NM_014575.3:c.245C>T, NM_001197107.2:c.245C>T, NM_001197107.1:c.245C>T, NM_001197113.2:c.473C>T, NM_001197113.1:c.473C>T, NM_001197114.2:c.392C>T, NM_001197114.1:c.392C>T, NM_001394283.1:c.164C>T, NM_001394289.1:c.164C>T, NM_001394291.1:c.164C>T, NM_001394284.1:c.164C>T, NM_001394286.1:c.164C>T, NM_001394288.1:c.164C>T, NM_001394290.1:c.164C>T, NM_001394282.1:c.164C>T, NM_001394285.1:c.164C>T, NM_001394287.1:c.164C>T, NM_001394293.1:c.164C>T, NM_001394292.1:c.164C>T, NP_055390.1:p.Pro82Leu, NP_001184036.1:p.Pro82Leu, NP_001184042.1:p.Pro158Leu, NP_001184043.1:p.Pro131Leu, NP_001381212.1:p.Pro55Leu, NP_001381218.1:p.Pro55Leu, NP_001381220.1:p.Pro55Leu, NP_001381213.1:p.Pro55Leu, NP_001381215.1:p.Pro55Leu, NP_001381217.1:p.Pro55Leu, NP_001381219.1:p.Pro55Leu, NP_001381211.1:p.Pro55Leu, NP_001381214.1:p.Pro55Leu, NP_001381216.1:p.Pro55Leu, NP_001381222.1:p.Pro55Leu, NP_001381221.1:p.Pro55Leu

Select item 14832177045.

rs1483217704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:159888914 (GRCh38)
3:159606703 (GRCh37)
Canonical SPDI:: NC_000003.12:159888913:T:C
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (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_000003.12:g.159888914T>C, NC_000003.11:g.159606703T>C, NM_014575.4:c.1289T>C, NM_014575.3:c.1289T>C, NM_001197107.2:c.1250T>C, NM_001197107.1:c.1250T>C, NM_001197113.2:c.1517T>C, NM_001197113.1:c.1517T>C, NM_001197114.2:c.1436T>C, NM_001197114.1:c.1436T>C, NM_001197108.2:c.593T>C, NM_001197108.1:c.593T>C, NM_001197109.2:c.560T>C, NM_001197109.1:c.560T>C, NM_001394283.1:c.1208T>C, NM_001394289.1:c.1169T>C, NM_001394291.1:c.1169T>C, NM_001394284.1:c.1208T>C, NM_001394286.1:c.1208T>C, NM_001394288.1:c.1169T>C, NM_001394290.1:c.1169T>C, NM_001394282.1:c.1208T>C, NM_001394285.1:c.1208T>C, NM_001394287.1:c.1169T>C, NM_001394293.1:c.1010T>C, NM_001394292.1:c.773T>C, NM_001394294.1:c.608T>C, NM_001394295.1:c.602T>C, NM_001394296.1:c.410T>C, NP_055390.1:p.Ile430Thr, NP_001184036.1:p.Ile417Thr, NP_001184042.1:p.Ile506Thr, NP_001184043.1:p.Ile479Thr, NP_001184037.1:p.Ile198Thr, NP_001184038.1:p.Ile187Thr, NP_001381212.1:p.Ile403Thr, NP_001381218.1:p.Ile390Thr, NP_001381220.1:p.Ile390Thr, NP_001381213.1:p.Ile403Thr, NP_001381215.1:p.Ile403Thr, NP_001381217.1:p.Ile390Thr, NP_001381219.1:p.Ile390Thr, NP_001381211.1:p.Ile403Thr, NP_001381214.1:p.Ile403Thr, NP_001381216.1:p.Ile390Thr, NP_001381222.1:p.Ile337Thr, NP_001381221.1:p.Ile258Thr, NP_001381223.1:p.Ile203Thr, NP_001381224.1:p.Ile201Thr, NP_001381225.1:p.Ile137Thr

Select item 14831436726.

rs1483143672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:159866219 (GRCh38)
3:159584008 (GRCh37)
Canonical SPDI:: NC_000003.12:159866218:T:C
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.159866219T>C, NC_000003.11:g.159584008T>C, NM_014575.4:c.816T>C, NM_014575.3:c.816T>C, NM_001197107.2:c.777T>C, NM_001197107.1:c.777T>C, NM_001197113.2:c.1044T>C, NM_001197113.1:c.1044T>C, NM_001197114.2:c.963T>C, NM_001197114.1:c.963T>C, NM_001197108.2:c.120T>C, NM_001197108.1:c.120T>C, NM_001197109.2:c.87T>C, NM_001197109.1:c.87T>C, NM_001394283.1:c.735T>C, NM_001394289.1:c.696T>C, NM_001394291.1:c.696T>C, NM_001394284.1:c.735T>C, NM_001394286.1:c.735T>C, NM_001394288.1:c.696T>C, NM_001394290.1:c.696T>C, NM_001394282.1:c.735T>C, NM_001394285.1:c.735T>C, NM_001394287.1:c.696T>C, NM_001394293.1:c.735T>C, NM_001394294.1:c.135T>C, NM_001394295.1:c.129T>C, NM_001394296.1:c.135T>C

Select item 14824879787.

rs1482487978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:159892101 (GRCh38)
3:159609890 (GRCh37)
Canonical SPDI:: NC_000003.12:159892100:G:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.159892101G>T, NC_000003.11:g.159609890G>T, NM_014575.4:c.1323G>T, NM_014575.3:c.1323G>T, NM_001197107.2:c.1284G>T, NM_001197107.1:c.1284G>T, NM_001197113.2:c.1551G>T, NM_001197113.1:c.1551G>T, NM_001197114.2:c.1470G>T, NM_001197114.1:c.1470G>T, NM_001197108.2:c.627G>T, NM_001197108.1:c.627G>T, NM_001197109.2:c.594G>T, NM_001197109.1:c.594G>T, NM_001394283.1:c.1242G>T, NM_001394289.1:c.1203G>T, NM_001394291.1:c.1203G>T, NM_001394284.1:c.1242G>T, NM_001394286.1:c.1242G>T, NM_001394288.1:c.1203G>T, NM_001394290.1:c.1203G>T, NM_001394282.1:c.1242G>T, NM_001394285.1:c.1242G>T, NM_001394287.1:c.1203G>T, NM_001394293.1:c.1044G>T, NM_001394292.1:c.807G>T, NM_001394294.1:c.642G>T, NM_001394295.1:c.636G>T, NM_001394296.1:c.444G>T, NP_055390.1:p.Leu441Phe, NP_001184036.1:p.Leu428Phe, NP_001184042.1:p.Leu517Phe, NP_001184043.1:p.Leu490Phe, NP_001184037.1:p.Leu209Phe, NP_001184038.1:p.Leu198Phe, NP_001381212.1:p.Leu414Phe, NP_001381218.1:p.Leu401Phe, NP_001381220.1:p.Leu401Phe, NP_001381213.1:p.Leu414Phe, NP_001381215.1:p.Leu414Phe, NP_001381217.1:p.Leu401Phe, NP_001381219.1:p.Leu401Phe, NP_001381211.1:p.Leu414Phe, NP_001381214.1:p.Leu414Phe, NP_001381216.1:p.Leu401Phe, NP_001381222.1:p.Leu348Phe, NP_001381221.1:p.Leu269Phe, NP_001381223.1:p.Leu214Phe, NP_001381224.1:p.Leu212Phe, NP_001381225.1:p.Leu148Phe

Select item 14821246638.

rs1482124663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:159765099 (GRCh38)
3:159482888 (GRCh37)
Canonical SPDI:: NC_000003.12:159765098:G:A
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,synonymous_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_000003.12:g.159765099G>A, NC_000003.11:g.159482888G>A, NM_014575.4:c.720G>A, NM_014575.3:c.720G>A, NM_001197107.2:c.720G>A, NM_001197107.1:c.720G>A, NM_001197113.2:c.948G>A, NM_001197113.1:c.948G>A, NM_001197114.2:c.867G>A, NM_001197114.1:c.867G>A, NM_001394283.1:c.639G>A, NM_001394289.1:c.639G>A, NM_001394291.1:c.639G>A, NM_001394284.1:c.639G>A, NM_001394286.1:c.639G>A, NM_001394288.1:c.639G>A, NM_001394290.1:c.639G>A, NM_001394282.1:c.639G>A, NM_001394285.1:c.639G>A, NM_001394287.1:c.639G>A, NM_001394293.1:c.639G>A, NM_001394292.1:c.639G>A

Select item 14813980809.

rs1481398080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:159896727 (GRCh38)
3:159614516 (GRCh37)
Canonical SPDI:: NC_000003.12:159896726:G:A
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.159896727G>A, NC_000003.11:g.159614516G>A, NM_014575.4:c.1417G>A, NM_014575.3:c.1417G>A, NM_001197107.2:c.1378G>A, NM_001197107.1:c.1378G>A, NM_001197113.2:c.1645G>A, NM_001197113.1:c.1645G>A, NM_001197114.2:c.1564G>A, NM_001197114.1:c.1564G>A, NM_001197108.2:c.721G>A, NM_001197108.1:c.721G>A, NM_001197109.2:c.688G>A, NM_001197109.1:c.688G>A, NM_001394283.1:c.1336G>A, NM_001394289.1:c.1297G>A, NM_001394291.1:c.1297G>A, NM_001394284.1:c.1336G>A, NM_001394286.1:c.1336G>A, NM_001394288.1:c.1297G>A, NM_001394290.1:c.1297G>A, NM_001394282.1:c.1336G>A, NM_001394285.1:c.1336G>A, NM_001394287.1:c.1297G>A, NM_001394293.1:c.1138G>A, NM_001394292.1:c.901G>A, NM_001394294.1:c.736G>A, NM_001394295.1:c.730G>A, NM_001394296.1:c.538G>A, NP_055390.1:p.Ala473Thr, NP_001184036.1:p.Ala460Thr, NP_001184042.1:p.Ala549Thr, NP_001184043.1:p.Ala522Thr, NP_001184037.1:p.Ala241Thr, NP_001184038.1:p.Ala230Thr, NP_001381212.1:p.Ala446Thr, NP_001381218.1:p.Ala433Thr, NP_001381220.1:p.Ala433Thr, NP_001381213.1:p.Ala446Thr, NP_001381215.1:p.Ala446Thr, NP_001381217.1:p.Ala433Thr, NP_001381219.1:p.Ala433Thr, NP_001381211.1:p.Ala446Thr, NP_001381214.1:p.Ala446Thr, NP_001381216.1:p.Ala433Thr, NP_001381222.1:p.Ala380Thr, NP_001381221.1:p.Ala301Thr, NP_001381223.1:p.Ala246Thr, NP_001381224.1:p.Ala244Thr, NP_001381225.1:p.Ala180Thr

Select item 147540849510.

rs1475408495 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:159764906 (GRCh38)
3:159482695 (GRCh37)
Canonical SPDI:: NC_000003.12:159764905:GGGG:GGG
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,frameshift_variant
HGVS:: NC_000003.12:g.159764909del, NC_000003.11:g.159482698del, NM_014575.4:c.530del, NM_014575.3:c.530del, NM_001197107.2:c.530del, NM_001197107.1:c.530del, NM_001197113.2:c.758del, NM_001197113.1:c.758del, NM_001197114.2:c.677del, NM_001197114.1:c.677del, NM_001394283.1:c.449del, NM_001394289.1:c.449del, NM_001394291.1:c.449del, NM_001394284.1:c.449del, NM_001394286.1:c.449del, NM_001394288.1:c.449del, NM_001394290.1:c.449del, NM_001394282.1:c.449del, NM_001394285.1:c.449del, NM_001394287.1:c.449del, NM_001394293.1:c.449del, NM_001394292.1:c.449del, NP_055390.1:p.Gly177fs, NP_001184036.1:p.Gly177fs, NP_001184042.1:p.Gly253fs, NP_001184043.1:p.Gly226fs, NP_001381212.1:p.Gly150fs, NP_001381218.1:p.Gly150fs, NP_001381220.1:p.Gly150fs, NP_001381213.1:p.Gly150fs, NP_001381215.1:p.Gly150fs, NP_001381217.1:p.Gly150fs, NP_001381219.1:p.Gly150fs, NP_001381211.1:p.Gly150fs, NP_001381214.1:p.Gly150fs, NP_001381216.1:p.Gly150fs, NP_001381222.1:p.Gly150fs, NP_001381221.1:p.Gly150fs

Select item 147497109711.

rs1474971097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:159764552 (GRCh38)
3:159482341 (GRCh37)
Canonical SPDI:: NC_000003.12:159764551:G:A,NC_000003.12:159764551:G:C
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.159764552G>A, NC_000003.12:g.159764552G>C, NC_000003.11:g.159482341G>A, NC_000003.11:g.159482341G>C, NM_014575.4:c.173G>A, NM_014575.4:c.173G>C, NM_014575.3:c.173G>A, NM_014575.3:c.173G>C, NM_001197107.2:c.173G>A, NM_001197107.2:c.173G>C, NM_001197107.1:c.173G>A, NM_001197107.1:c.173G>C, NM_001197113.2:c.401G>A, NM_001197113.2:c.401G>C, NM_001197113.1:c.401G>A, NM_001197113.1:c.401G>C, NM_001197114.2:c.320G>A, NM_001197114.2:c.320G>C, NM_001197114.1:c.320G>A, NM_001197114.1:c.320G>C, NM_001394283.1:c.92G>A, NM_001394283.1:c.92G>C, NM_001394289.1:c.92G>A, NM_001394289.1:c.92G>C, NM_001394291.1:c.92G>A, NM_001394291.1:c.92G>C, NM_001394284.1:c.92G>A, NM_001394284.1:c.92G>C, NM_001394286.1:c.92G>A, NM_001394286.1:c.92G>C, NM_001394288.1:c.92G>A, NM_001394288.1:c.92G>C, NM_001394290.1:c.92G>A, NM_001394290.1:c.92G>C, NM_001394282.1:c.92G>A, NM_001394282.1:c.92G>C, NM_001394285.1:c.92G>A, NM_001394285.1:c.92G>C, NM_001394287.1:c.92G>A, NM_001394287.1:c.92G>C, NM_001394293.1:c.92G>A, NM_001394293.1:c.92G>C, NM_001394292.1:c.92G>A, NM_001394292.1:c.92G>C, NP_055390.1:p.Cys58Tyr, NP_055390.1:p.Cys58Ser, NP_001184036.1:p.Cys58Tyr, NP_001184036.1:p.Cys58Ser, NP_001184042.1:p.Cys134Tyr, NP_001184042.1:p.Cys134Ser, NP_001184043.1:p.Cys107Tyr, NP_001184043.1:p.Cys107Ser, NP_001381212.1:p.Cys31Tyr, NP_001381212.1:p.Cys31Ser, NP_001381218.1:p.Cys31Tyr, NP_001381218.1:p.Cys31Ser, NP_001381220.1:p.Cys31Tyr, NP_001381220.1:p.Cys31Ser, NP_001381213.1:p.Cys31Tyr, NP_001381213.1:p.Cys31Ser, NP_001381215.1:p.Cys31Tyr, NP_001381215.1:p.Cys31Ser, NP_001381217.1:p.Cys31Tyr, NP_001381217.1:p.Cys31Ser, NP_001381219.1:p.Cys31Tyr, NP_001381219.1:p.Cys31Ser, NP_001381211.1:p.Cys31Tyr, NP_001381211.1:p.Cys31Ser, NP_001381214.1:p.Cys31Tyr, NP_001381214.1:p.Cys31Ser, NP_001381216.1:p.Cys31Tyr, NP_001381216.1:p.Cys31Ser, NP_001381222.1:p.Cys31Tyr, NP_001381222.1:p.Cys31Ser, NP_001381221.1:p.Cys31Tyr, NP_001381221.1:p.Cys31Ser

Select item 147493930912.

rs1474939309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:159765108 (GRCh38)
3:159482897 (GRCh37)
Canonical SPDI:: NC_000003.12:159765107:C:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,synonymous_variant
HGVS:: NC_000003.12:g.159765108C>T, NC_000003.11:g.159482897C>T, NM_014575.4:c.729C>T, NM_014575.3:c.729C>T, NM_001197113.2:c.957C>T, NM_001197113.1:c.957C>T, NM_001197114.2:c.876C>T, NM_001197114.1:c.876C>T, NM_001394283.1:c.648C>T, NM_001394284.1:c.648C>T, NM_001394286.1:c.648C>T, NM_001394282.1:c.648C>T, NM_001394285.1:c.648C>T, NM_001394293.1:c.648C>T, NM_001394292.1:c.648C>T

Select item 147304648713.

rs1473046487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:159765116 (GRCh38)
3:159482905 (GRCh37)
Canonical SPDI:: NC_000003.12:159765115:A:G
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,500B_downstream_variant
HGVS:: NC_000003.12:g.159765116A>G, NC_000003.11:g.159482905A>G, NM_014575.4:c.737A>G, NM_014575.3:c.737A>G, NM_001197113.2:c.965A>G, NM_001197113.1:c.965A>G, NM_001197114.2:c.884A>G, NM_001197114.1:c.884A>G, NM_001394283.1:c.656A>G, NM_001394284.1:c.656A>G, NM_001394286.1:c.656A>G, NM_001394282.1:c.656A>G, NM_001394285.1:c.656A>G, NM_001394293.1:c.656A>G, NM_001394292.1:c.656A>G, NP_055390.1:p.Gln246Arg, NP_001184042.1:p.Gln322Arg, NP_001184043.1:p.Gln295Arg, NP_001381212.1:p.Gln219Arg, NP_001381213.1:p.Gln219Arg, NP_001381215.1:p.Gln219Arg, NP_001381211.1:p.Gln219Arg, NP_001381214.1:p.Gln219Arg, NP_001381222.1:p.Gln219Arg, NP_001381221.1:p.Gln219Arg

Select item 147188739414.

rs1471887394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:159765073 (GRCh38)
3:159482862 (GRCh37)
Canonical SPDI:: NC_000003.12:159765072:G:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.159765073G>T, NC_000003.11:g.159482862G>T, NM_014575.4:c.694G>T, NM_014575.3:c.694G>T, NM_001197107.2:c.694G>T, NM_001197107.1:c.694G>T, NM_001197113.2:c.922G>T, NM_001197113.1:c.922G>T, NM_001197114.2:c.841G>T, NM_001197114.1:c.841G>T, NM_001394283.1:c.613G>T, NM_001394289.1:c.613G>T, NM_001394291.1:c.613G>T, NM_001394284.1:c.613G>T, NM_001394286.1:c.613G>T, NM_001394288.1:c.613G>T, NM_001394290.1:c.613G>T, NM_001394282.1:c.613G>T, NM_001394285.1:c.613G>T, NM_001394287.1:c.613G>T, NM_001394293.1:c.613G>T, NM_001394292.1:c.613G>T, NP_055390.1:p.Ala232Ser, NP_001184036.1:p.Ala232Ser, NP_001184042.1:p.Ala308Ser, NP_001184043.1:p.Ala281Ser, NP_001381212.1:p.Ala205Ser, NP_001381218.1:p.Ala205Ser, NP_001381220.1:p.Ala205Ser, NP_001381213.1:p.Ala205Ser, NP_001381215.1:p.Ala205Ser, NP_001381217.1:p.Ala205Ser, NP_001381219.1:p.Ala205Ser, NP_001381211.1:p.Ala205Ser, NP_001381214.1:p.Ala205Ser, NP_001381216.1:p.Ala205Ser, NP_001381222.1:p.Ala205Ser, NP_001381221.1:p.Ala205Ser

Select item 147169702415.

rs1471697024 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:159765028 (GRCh38)
3:159482817 (GRCh37)
Canonical SPDI:: NC_000003.12:159765027:CCCCC:CCCC
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.159765032del, NC_000003.11:g.159482821del, NM_014575.4:c.653del, NM_014575.3:c.653del, NM_001197107.2:c.653del, NM_001197107.1:c.653del, NM_001197113.2:c.881del, NM_001197113.1:c.881del, NM_001197114.2:c.800del, NM_001197114.1:c.800del, NM_001394283.1:c.572del, NM_001394289.1:c.572del, NM_001394291.1:c.572del, NM_001394284.1:c.572del, NM_001394286.1:c.572del, NM_001394288.1:c.572del, NM_001394290.1:c.572del, NM_001394282.1:c.572del, NM_001394285.1:c.572del, NM_001394287.1:c.572del, NM_001394293.1:c.572del, NM_001394292.1:c.572del, NP_055390.1:p.Pro218fs, NP_001184036.1:p.Pro218fs, NP_001184042.1:p.Pro294fs, NP_001184043.1:p.Pro267fs, NP_001381212.1:p.Pro191fs, NP_001381218.1:p.Pro191fs, NP_001381220.1:p.Pro191fs, NP_001381213.1:p.Pro191fs, NP_001381215.1:p.Pro191fs, NP_001381217.1:p.Pro191fs, NP_001381219.1:p.Pro191fs, NP_001381211.1:p.Pro191fs, NP_001381214.1:p.Pro191fs, NP_001381216.1:p.Pro191fs, NP_001381222.1:p.Pro191fs, NP_001381221.1:p.Pro191fs

Select item 147018016916.

rs1470180169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:159764450 (GRCh38)
3:159482239 (GRCh37)
Canonical SPDI:: NC_000003.12:159764449:G:A
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.159764450G>A, NC_000003.11:g.159482239G>A, NM_014575.4:c.71G>A, NM_014575.3:c.71G>A, NM_001197107.2:c.71G>A, NM_001197107.1:c.71G>A, NM_001197113.2:c.299G>A, NM_001197113.1:c.299G>A, NM_001197114.2:c.218G>A, NM_001197114.1:c.218G>A, NM_001394283.1:c.-11G>A, NM_001394289.1:c.-11G>A, NM_001394291.1:c.-11G>A, NM_001394284.1:c.-11G>A, NM_001394286.1:c.-11G>A, NM_001394288.1:c.-11G>A, NM_001394290.1:c.-11G>A, NM_001394282.1:c.-11G>A, NM_001394285.1:c.-11G>A, NM_001394287.1:c.-11G>A, NM_001394293.1:c.-11G>A, NM_001394292.1:c.-11G>A, NP_055390.1:p.Arg24Gln, NP_001184036.1:p.Arg24Gln, NP_001184042.1:p.Arg100Gln, NP_001184043.1:p.Arg73Gln

Select item 146885336617.

rs1468853366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:159764479 (GRCh38)
3:159482268 (GRCh37)
Canonical SPDI:: NC_000003.12:159764478:G:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.159764479G>T, NC_000003.11:g.159482268G>T, NM_014575.4:c.100G>T, NM_014575.3:c.100G>T, NM_001197107.2:c.100G>T, NM_001197107.1:c.100G>T, NM_001197113.2:c.328G>T, NM_001197113.1:c.328G>T, NM_001197114.2:c.247G>T, NM_001197114.1:c.247G>T, NM_001394283.1:c.19G>T, NM_001394289.1:c.19G>T, NM_001394291.1:c.19G>T, NM_001394284.1:c.19G>T, NM_001394286.1:c.19G>T, NM_001394288.1:c.19G>T, NM_001394290.1:c.19G>T, NM_001394282.1:c.19G>T, NM_001394285.1:c.19G>T, NM_001394287.1:c.19G>T, NM_001394293.1:c.19G>T, NM_001394292.1:c.19G>T, NP_055390.1:p.Ala34Ser, NP_001184036.1:p.Ala34Ser, NP_001184042.1:p.Ala110Ser, NP_001184043.1:p.Ala83Ser, NP_001381212.1:p.Ala7Ser, NP_001381218.1:p.Ala7Ser, NP_001381220.1:p.Ala7Ser, NP_001381213.1:p.Ala7Ser, NP_001381215.1:p.Ala7Ser, NP_001381217.1:p.Ala7Ser, NP_001381219.1:p.Ala7Ser, NP_001381211.1:p.Ala7Ser, NP_001381214.1:p.Ala7Ser, NP_001381216.1:p.Ala7Ser, NP_001381222.1:p.Ala7Ser, NP_001381221.1:p.Ala7Ser

Select item 146165871718.

rs1461658717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:159887888 (GRCh38)
3:159605677 (GRCh37)
Canonical SPDI:: NC_000003.12:159887887:T:G
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.159887888T>G, NC_000003.11:g.159605677T>G, NM_014575.4:c.1177T>G, NM_014575.3:c.1177T>G, NM_001197107.2:c.1138T>G, NM_001197107.1:c.1138T>G, NM_001197113.2:c.1405T>G, NM_001197113.1:c.1405T>G, NM_001197114.2:c.1324T>G, NM_001197114.1:c.1324T>G, NM_001197108.2:c.481T>G, NM_001197108.1:c.481T>G, NM_001197109.2:c.448T>G, NM_001197109.1:c.448T>G, NM_001394283.1:c.1096T>G, NM_001394289.1:c.1057T>G, NM_001394291.1:c.1057T>G, NM_001394284.1:c.1096T>G, NM_001394286.1:c.1096T>G, NM_001394288.1:c.1057T>G, NM_001394290.1:c.1057T>G, NM_001394282.1:c.1096T>G, NM_001394285.1:c.1096T>G, NM_001394287.1:c.1057T>G, NM_001394294.1:c.496T>G, NM_001394295.1:c.490T>G, NP_055390.1:p.Ser393Ala, NP_001184036.1:p.Ser380Ala, NP_001184042.1:p.Ser469Ala, NP_001184043.1:p.Ser442Ala, NP_001184037.1:p.Ser161Ala, NP_001184038.1:p.Ser150Ala, NP_001381212.1:p.Ser366Ala, NP_001381218.1:p.Ser353Ala, NP_001381220.1:p.Ser353Ala, NP_001381213.1:p.Ser366Ala, NP_001381215.1:p.Ser366Ala, NP_001381217.1:p.Ser353Ala, NP_001381219.1:p.Ser353Ala, NP_001381211.1:p.Ser366Ala, NP_001381214.1:p.Ser366Ala, NP_001381216.1:p.Ser353Ala, NP_001381223.1:p.Ser166Ala, NP_001381224.1:p.Ser164Ala

Select item 146090431419.

rs1460904314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:159765032 (GRCh38)
3:159482821 (GRCh37)
Canonical SPDI:: NC_000003.12:159765031:C:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview), IQCJ-SCHIP1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.159765032C>T, NC_000003.11:g.159482821C>T, NM_014575.4:c.653C>T, NM_014575.3:c.653C>T, NM_001197107.2:c.653C>T, NM_001197107.1:c.653C>T, NM_001197113.2:c.881C>T, NM_001197113.1:c.881C>T, NM_001197114.2:c.800C>T, NM_001197114.1:c.800C>T, NM_001394283.1:c.572C>T, NM_001394289.1:c.572C>T, NM_001394291.1:c.572C>T, NM_001394284.1:c.572C>T, NM_001394286.1:c.572C>T, NM_001394288.1:c.572C>T, NM_001394290.1:c.572C>T, NM_001394282.1:c.572C>T, NM_001394285.1:c.572C>T, NM_001394287.1:c.572C>T, NM_001394293.1:c.572C>T, NM_001394292.1:c.572C>T, NP_055390.1:p.Pro218Leu, NP_001184036.1:p.Pro218Leu, NP_001184042.1:p.Pro294Leu, NP_001184043.1:p.Pro267Leu, NP_001381212.1:p.Pro191Leu, NP_001381218.1:p.Pro191Leu, NP_001381220.1:p.Pro191Leu, NP_001381213.1:p.Pro191Leu, NP_001381215.1:p.Pro191Leu, NP_001381217.1:p.Pro191Leu, NP_001381219.1:p.Pro191Leu, NP_001381211.1:p.Pro191Leu, NP_001381214.1:p.Pro191Leu, NP_001381216.1:p.Pro191Leu, NP_001381222.1:p.Pro191Leu, NP_001381221.1:p.Pro191Leu

Select item 145839910520.

rs1458399105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:159764563 (GRCh38)
3:159482352 (GRCh37)
Canonical SPDI:: NC_000003.12:159764562:T:A
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.159764563T>A, NC_000003.11:g.159482352T>A, NM_014575.4:c.184T>A, NM_014575.3:c.184T>A, NM_001197107.2:c.184T>A, NM_001197107.1:c.184T>A, NM_001197113.2:c.412T>A, NM_001197113.1:c.412T>A, NM_001197114.2:c.331T>A, NM_001197114.1:c.331T>A, NM_001394283.1:c.103T>A, NM_001394289.1:c.103T>A, NM_001394291.1:c.103T>A, NM_001394284.1:c.103T>A, NM_001394286.1:c.103T>A, NM_001394288.1:c.103T>A, NM_001394290.1:c.103T>A, NM_001394282.1:c.103T>A, NM_001394285.1:c.103T>A, NM_001394287.1:c.103T>A, NM_001394293.1:c.103T>A, NM_001394292.1:c.103T>A, NP_055390.1:p.Ser62Thr, NP_001184036.1:p.Ser62Thr, NP_001184042.1:p.Ser138Thr, NP_001184043.1:p.Ser111Thr, NP_001381212.1:p.Ser35Thr, NP_001381218.1:p.Ser35Thr, NP_001381220.1:p.Ser35Thr, NP_001381213.1:p.Ser35Thr, NP_001381215.1:p.Ser35Thr, NP_001381217.1:p.Ser35Thr, NP_001381219.1:p.Ser35Thr, NP_001381211.1:p.Ser35Thr, NP_001381214.1:p.Ser35Thr, NP_001381216.1:p.Ser35Thr, NP_001381222.1:p.Ser35Thr, NP_001381221.1:p.Ser35Thr

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