SNP Links for Protein (Select 308193344) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 450

<< First< Prev

Page of 23

Select item 14884649361.

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 14872508012.

rs1487250801 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:159273884 (GRCh38)
3:158991673 (GRCh37)
Canonical SPDI:: NC_000003.12:159273881:GTGT:GT
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,splice_donor_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.159273882GT[1], NC_000003.11:g.158991671GT[1]

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 147188739412.

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 147169702413.

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 147018016914.

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 146885336615.

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 146165871716.

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 146090431417.

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 145839910518.

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

Select item 145733963319.

rs1457339633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:159764758 (GRCh38)
3:159482547 (GRCh37)
Canonical SPDI:: NC_000003.12:159764757:G:A,NC_000003.12:159764757:G:T
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.159764758G>A, NC_000003.12:g.159764758G>T, NC_000003.11:g.159482547G>A, NC_000003.11:g.159482547G>T, NM_014575.4:c.379G>A, NM_014575.4:c.379G>T, NM_014575.3:c.379G>A, NM_014575.3:c.379G>T, NM_001197107.2:c.379G>A, NM_001197107.2:c.379G>T, NM_001197107.1:c.379G>A, NM_001197107.1:c.379G>T, NM_001197113.2:c.607G>A, NM_001197113.2:c.607G>T, NM_001197113.1:c.607G>A, NM_001197113.1:c.607G>T, NM_001197114.2:c.526G>A, NM_001197114.2:c.526G>T, NM_001197114.1:c.526G>A, NM_001197114.1:c.526G>T, NM_001394283.1:c.298G>A, NM_001394283.1:c.298G>T, NM_001394289.1:c.298G>A, NM_001394289.1:c.298G>T, NM_001394291.1:c.298G>A, NM_001394291.1:c.298G>T, NM_001394284.1:c.298G>A, NM_001394284.1:c.298G>T, NM_001394286.1:c.298G>A, NM_001394286.1:c.298G>T, NM_001394288.1:c.298G>A, NM_001394288.1:c.298G>T, NM_001394290.1:c.298G>A, NM_001394290.1:c.298G>T, NM_001394282.1:c.298G>A, NM_001394282.1:c.298G>T, NM_001394285.1:c.298G>A, NM_001394285.1:c.298G>T, NM_001394287.1:c.298G>A, NM_001394287.1:c.298G>T, NM_001394293.1:c.298G>A, NM_001394293.1:c.298G>T, NM_001394292.1:c.298G>A, NM_001394292.1:c.298G>T, NP_055390.1:p.Ala127Thr, NP_055390.1:p.Ala127Ser, NP_001184036.1:p.Ala127Thr, NP_001184036.1:p.Ala127Ser, NP_001184042.1:p.Ala203Thr, NP_001184042.1:p.Ala203Ser, NP_001184043.1:p.Ala176Thr, NP_001184043.1:p.Ala176Ser, NP_001381212.1:p.Ala100Thr, NP_001381212.1:p.Ala100Ser, NP_001381218.1:p.Ala100Thr, NP_001381218.1:p.Ala100Ser, NP_001381220.1:p.Ala100Thr, NP_001381220.1:p.Ala100Ser, NP_001381213.1:p.Ala100Thr, NP_001381213.1:p.Ala100Ser, NP_001381215.1:p.Ala100Thr, NP_001381215.1:p.Ala100Ser, NP_001381217.1:p.Ala100Thr, NP_001381217.1:p.Ala100Ser, NP_001381219.1:p.Ala100Thr, NP_001381219.1:p.Ala100Ser, NP_001381211.1:p.Ala100Thr, NP_001381211.1:p.Ala100Ser, NP_001381214.1:p.Ala100Thr, NP_001381214.1:p.Ala100Ser, NP_001381216.1:p.Ala100Thr, NP_001381216.1:p.Ala100Ser, NP_001381222.1:p.Ala100Thr, NP_001381222.1:p.Ala100Ser, NP_001381221.1:p.Ala100Thr, NP_001381221.1:p.Ala100Ser

Select item 145714649820.

rs1457146498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:159887804 (GRCh38)
3:159605593 (GRCh37)
Canonical SPDI:: NC_000003.12:159887803:C:A
Gene:: SCHIP1 (Varview), IQCJ-SCHIP1 (Varview)
Functional Consequence:: intron_variant,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_000003.12:g.159887804C>A, NC_000003.11:g.159605593C>A, NM_014575.4:c.1093C>A, NM_014575.3:c.1093C>A, NM_001197107.2:c.1054C>A, NM_001197107.1:c.1054C>A, NM_001197113.2:c.1321C>A, NM_001197113.1:c.1321C>A, NM_001197114.2:c.1240C>A, NM_001197114.1:c.1240C>A, NM_001197108.2:c.397C>A, NM_001197108.1:c.397C>A, NM_001197109.2:c.364C>A, NM_001197109.1:c.364C>A, NM_001394283.1:c.1012C>A, NM_001394289.1:c.973C>A, NM_001394291.1:c.973C>A, NM_001394284.1:c.1012C>A, NM_001394286.1:c.1012C>A, NM_001394288.1:c.973C>A, NM_001394290.1:c.973C>A, NM_001394282.1:c.1012C>A, NM_001394285.1:c.1012C>A, NM_001394287.1:c.973C>A, NM_001394294.1:c.412C>A, NM_001394295.1:c.406C>A, NP_055390.1:p.Gln365Lys, NP_001184036.1:p.Gln352Lys, NP_001184042.1:p.Gln441Lys, NP_001184043.1:p.Gln414Lys, NP_001184037.1:p.Gln133Lys, NP_001184038.1:p.Gln122Lys, NP_001381212.1:p.Gln338Lys, NP_001381218.1:p.Gln325Lys, NP_001381220.1:p.Gln325Lys, NP_001381213.1:p.Gln338Lys, NP_001381215.1:p.Gln338Lys, NP_001381217.1:p.Gln325Lys, NP_001381219.1:p.Gln325Lys, NP_001381211.1:p.Gln338Lys, NP_001381214.1:p.Gln338Lys, NP_001381216.1:p.Gln325Lys, NP_001381223.1:p.Gln138Lys, NP_001381224.1:p.Gln136Lys

<< First< Prev

Page of 23

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 308193344) (450)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...