SNP Links for Protein (Select 578806264) - SNP

Links from Protein

Items: 1 to 20 of 454

<< First< Prev

Page of 23

Next >Last >>

Select item 14907214931.

rs1490721493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25791853 (GRCh38)
3:25833344 (GRCh37)
Canonical SPDI:: NC_000003.12:25791852:A:G
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.25791853A>G, NC_000003.11:g.25833344A>G, NG_034108.1:g.3187T>C, XM_006713216.5:c.833A>G, XM_006713216.4:c.833A>G, XM_006713216.3:c.833A>G, XM_006713216.2:c.833A>G, XM_006713216.1:c.833A>G, XM_006713217.5:c.8A>G, XM_006713217.4:c.8A>G, XM_006713217.3:c.8A>G, XM_006713217.2:c.8A>G, XM_006713217.1:c.8A>G, NM_017897.3:c.833A>G, NM_017897.2:c.833A>G, NR_026937.2:n.468A>G, NR_026937.1:n.486A>G, XP_006713279.1:p.Glu278Gly, XP_006713280.1:p.Glu3Gly, NP_060367.1:p.Glu278Gly

Select item 14902722162.

rs1490272216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25791160 (GRCh38)
3:25832651 (GRCh37)
Canonical SPDI:: NC_000003.12:25791159:C:T
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25791160C>T, NC_000003.11:g.25832651C>T, NG_034108.1:g.3880G>A, XM_006713216.5:c.140C>T, XM_006713216.4:c.140C>T, XM_006713216.3:c.140C>T, XM_006713216.2:c.140C>T, XM_006713216.1:c.140C>T, XM_006713217.5:c.-232C>T, XM_006713217.4:c.-232C>T, XM_006713217.3:c.-232C>T, XM_006713217.2:c.-232C>T, XM_006713217.1:c.-232C>T, NM_017897.3:c.140C>T, NM_017897.2:c.140C>T, NM_001145391.2:c.140C>T, NM_001145391.1:c.140C>T, NR_026937.2:n.229C>T, NR_026937.1:n.247C>T, XP_006713279.1:p.Thr47Ile, NP_060367.1:p.Thr47Ile, NP_001138863.1:p.Thr47Ile

Select item 14897692943.

rs1489769294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:25791532 (GRCh38)
3:25833023 (GRCh37)
Canonical SPDI:: NC_000003.12:25791531:G:A,NC_000003.12:25791531:G:T
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25791532G>A, NC_000003.12:g.25791532G>T, NC_000003.11:g.25833023G>A, NC_000003.11:g.25833023G>T, NG_034108.1:g.3508C>T, NG_034108.1:g.3508C>A, XM_006713216.5:c.512G>A, XM_006713216.5:c.512G>T, XM_006713216.4:c.512G>A, XM_006713216.4:c.512G>T, XM_006713216.3:c.512G>A, XM_006713216.3:c.512G>T, XM_006713216.2:c.512G>A, XM_006713216.2:c.512G>T, XM_006713216.1:c.512G>A, XM_006713216.1:c.512G>T, NM_017897.3:c.512G>A, NM_017897.3:c.512G>T, NM_017897.2:c.512G>A, NM_017897.2:c.512G>T, NM_001145391.2:c.512G>A, NM_001145391.2:c.512G>T, NM_001145391.1:c.512G>A, NM_001145391.1:c.512G>T, XP_006713279.1:p.Gly171Asp, XP_006713279.1:p.Gly171Val, NP_060367.1:p.Gly171Asp, NP_060367.1:p.Gly171Val, NP_001138863.1:p.Gly171Asp, NP_001138863.1:p.Gly171Val

Select item 14892107354.

rs1489210735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25794261 (GRCh38)
3:25835752 (GRCh37)
Canonical SPDI:: NC_000003.12:25794260:A:G
Gene:: OXSM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000003.12:g.25794261A>G, NC_000003.11:g.25835752A>G, NG_034108.1:g.779T>C, XM_006713216.5:c.1147A>G, XM_006713216.4:c.1147A>G, XM_006713216.3:c.1147A>G, XM_006713216.2:c.1147A>G, XM_006713216.1:c.1147A>G, XM_006713217.5:c.322A>G, XM_006713217.4:c.322A>G, XM_006713217.3:c.322A>G, XM_006713217.2:c.322A>G, XM_006713217.1:c.322A>G, NM_017897.3:c.1147A>G, NM_017897.2:c.1147A>G, NM_001145391.2:c.898A>G, NM_001145391.1:c.898A>G, NR_026937.2:n.782A>G, NR_026937.1:n.800A>G, XP_006713279.1:p.Thr383Ala, XP_006713280.1:p.Thr108Ala, NP_060367.1:p.Thr383Ala, NP_001138863.1:p.Thr300Ala

Select item 14882638835.

rs1488263883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:25791849 (GRCh38)
3:25833340 (GRCh37)
Canonical SPDI:: NC_000003.12:25791848:G:T
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25791849G>T, NC_000003.11:g.25833340G>T, NG_034108.1:g.3191C>A, XM_006713216.5:c.829G>T, XM_006713216.4:c.829G>T, XM_006713216.3:c.829G>T, XM_006713216.2:c.829G>T, XM_006713216.1:c.829G>T, XM_006713217.5:c.4G>T, XM_006713217.4:c.4G>T, XM_006713217.3:c.4G>T, XM_006713217.2:c.4G>T, XM_006713217.1:c.4G>T, NM_017897.3:c.829G>T, NM_017897.2:c.829G>T, NR_026937.2:n.464G>T, NR_026937.1:n.482G>T, XP_006713279.1:p.Gly277Ter, XP_006713280.1:p.Gly2Ter, NP_060367.1:p.Gly277Ter

Select item 14828374236.

rs1482837423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25794457 (GRCh38)
3:25835948 (GRCh37)
Canonical SPDI:: NC_000003.12:25794456:G:A
Gene:: OXSM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.25794457G>A, NC_000003.11:g.25835948G>A, NG_034108.1:g.583C>T, XM_006713216.5:c.1343G>A, XM_006713216.4:c.1343G>A, XM_006713216.3:c.1343G>A, XM_006713216.2:c.1343G>A, XM_006713216.1:c.1343G>A, XM_006713217.5:c.518G>A, XM_006713217.4:c.518G>A, XM_006713217.3:c.518G>A, XM_006713217.2:c.518G>A, XM_006713217.1:c.518G>A, NM_017897.3:c.1343G>A, NM_017897.2:c.1343G>A, NM_001145391.2:c.1094G>A, NM_001145391.1:c.1094G>A, NR_026937.2:n.978G>A, NR_026937.1:n.996G>A, XP_006713279.1:p.Gly448Asp, XP_006713280.1:p.Gly173Asp, NP_060367.1:p.Gly448Asp, NP_001138863.1:p.Gly365Asp

Select item 14827206857.

rs1482720685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:25794163 (GRCh38)
3:25835654 (GRCh37)
Canonical SPDI:: NC_000003.12:25794162:C:G
Gene:: OXSM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.25794163C>G, NC_000003.11:g.25835654C>G, NG_034108.1:g.877G>C, XM_006713216.5:c.1049C>G, XM_006713216.4:c.1049C>G, XM_006713216.3:c.1049C>G, XM_006713216.2:c.1049C>G, XM_006713216.1:c.1049C>G, XM_006713217.5:c.224C>G, XM_006713217.4:c.224C>G, XM_006713217.3:c.224C>G, XM_006713217.2:c.224C>G, XM_006713217.1:c.224C>G, NM_017897.3:c.1049C>G, NM_017897.2:c.1049C>G, NM_001145391.2:c.800C>G, NM_001145391.1:c.800C>G, NR_026937.2:n.684C>G, NR_026937.1:n.702C>G, XP_006713279.1:p.Thr350Ser, XP_006713280.1:p.Thr75Ser, NP_060367.1:p.Thr350Ser, NP_001138863.1:p.Thr267Ser

Select item 14812508208.

rs1481250820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25791660 (GRCh38)
3:25833151 (GRCh37)
Canonical SPDI:: NC_000003.12:25791659:C:T
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25791660C>T, NC_000003.11:g.25833151C>T, NG_034108.1:g.3380G>A, XM_006713216.5:c.640C>T, XM_006713216.4:c.640C>T, XM_006713216.3:c.640C>T, XM_006713216.2:c.640C>T, XM_006713216.1:c.640C>T, NM_017897.3:c.640C>T, NM_017897.2:c.640C>T, NM_001145391.2:c.640C>T, NM_001145391.1:c.640C>T, XP_006713279.1:p.His214Tyr, NP_060367.1:p.His214Tyr, NP_001138863.1:p.His214Tyr

Select item 14812446939.

rs1481244693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:25791085 (GRCh38)
3:25832576 (GRCh37)
Canonical SPDI:: NC_000003.12:25791084:G:T
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.25791085G>T, NC_000003.11:g.25832576G>T, NG_034108.1:g.3955C>A, XM_006713216.5:c.65G>T, XM_006713216.4:c.65G>T, XM_006713216.3:c.65G>T, XM_006713216.2:c.65G>T, XM_006713216.1:c.65G>T, XM_006713217.5:c.-307G>T, XM_006713217.4:c.-307G>T, XM_006713217.3:c.-307G>T, XM_006713217.2:c.-307G>T, XM_006713217.1:c.-307G>T, NM_017897.3:c.65G>T, NM_017897.2:c.65G>T, NM_001145391.2:c.65G>T, NM_001145391.1:c.65G>T, NR_026937.2:n.154G>T, NR_026937.1:n.172G>T, XP_006713279.1:p.Cys22Phe, NP_060367.1:p.Cys22Phe, NP_001138863.1:p.Cys22Phe

Select item 147929034310.

rs1479290343 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:25794104 (GRCh38)
3:25835595 (GRCh37)
Canonical SPDI:: NC_000003.12:25794103:T:
Gene:: OXSM (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25794104del, NC_000003.11:g.25835595del, NG_034108.1:g.936del, XM_006713216.5:c.990del, XM_006713216.4:c.990del, XM_006713216.3:c.990del, XM_006713216.2:c.990del, XM_006713216.1:c.990del, XM_006713217.5:c.165del, XM_006713217.4:c.165del, XM_006713217.3:c.165del, XM_006713217.2:c.165del, XM_006713217.1:c.165del, NM_017897.3:c.990del, NM_017897.2:c.990del, NM_001145391.2:c.741del, NM_001145391.1:c.741del, NR_026937.2:n.625del, NR_026937.1:n.643del, XP_006713279.1:p.Ala331fs, XP_006713280.1:p.Ala56fs, NP_060367.1:p.Ala331fs, NP_001138863.1:p.Ala248fs

Select item 147872805111.

rs1478728051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25794195 (GRCh38)
3:25835686 (GRCh37)
Canonical SPDI:: NC_000003.12:25794194:A:G
Gene:: OXSM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25794195A>G, NC_000003.11:g.25835686A>G, NG_034108.1:g.845T>C, XM_006713216.5:c.1081A>G, XM_006713216.4:c.1081A>G, XM_006713216.3:c.1081A>G, XM_006713216.2:c.1081A>G, XM_006713216.1:c.1081A>G, XM_006713217.5:c.256A>G, XM_006713217.4:c.256A>G, XM_006713217.3:c.256A>G, XM_006713217.2:c.256A>G, XM_006713217.1:c.256A>G, NM_017897.3:c.1081A>G, NM_017897.2:c.1081A>G, NM_001145391.2:c.832A>G, NM_001145391.1:c.832A>G, NR_026937.2:n.716A>G, NR_026937.1:n.734A>G, XP_006713279.1:p.Lys361Glu, XP_006713280.1:p.Lys86Glu, NP_060367.1:p.Lys361Glu, NP_001138863.1:p.Lys278Glu

Select item 147453071512.

rs1474530715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25791181 (GRCh38)
3:25832672 (GRCh37)
Canonical SPDI:: NC_000003.12:25791180:C:T
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000024/6 (GnomAD_exomes)
T=0.00463/1 (Vietnamese)
HGVS:: NC_000003.12:g.25791181C>T, NC_000003.11:g.25832672C>T, NG_034108.1:g.3859G>A, XM_006713216.5:c.161C>T, XM_006713216.4:c.161C>T, XM_006713216.3:c.161C>T, XM_006713216.2:c.161C>T, XM_006713216.1:c.161C>T, XM_006713217.5:c.-211C>T, XM_006713217.4:c.-211C>T, XM_006713217.3:c.-211C>T, XM_006713217.2:c.-211C>T, XM_006713217.1:c.-211C>T, NM_017897.3:c.161C>T, NM_017897.2:c.161C>T, NM_001145391.2:c.161C>T, NM_001145391.1:c.161C>T, NR_026937.2:n.250C>T, NR_026937.1:n.268C>T, XP_006713279.1:p.Pro54Leu, NP_060367.1:p.Pro54Leu, NP_001138863.1:p.Pro54Leu

Select item 147312082513.

rs1473120825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:25791982 (GRCh38)
3:25833473 (GRCh37)
Canonical SPDI:: NC_000003.12:25791981:G:C
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25791982G>C, NC_000003.11:g.25833473G>C, NG_034108.1:g.3058C>G, XM_006713216.5:c.962G>C, XM_006713216.4:c.962G>C, XM_006713216.3:c.962G>C, XM_006713216.2:c.962G>C, XM_006713216.1:c.962G>C, XM_006713217.5:c.137G>C, XM_006713217.4:c.137G>C, XM_006713217.3:c.137G>C, XM_006713217.2:c.137G>C, XM_006713217.1:c.137G>C, NM_017897.3:c.962G>C, NM_017897.2:c.962G>C, NM_001145391.2:c.713G>C, NM_001145391.1:c.713G>C, NR_026937.2:n.597G>C, NR_026937.1:n.615G>C, XP_006713279.1:p.Gly321Ala, XP_006713280.1:p.Gly46Ala, NP_060367.1:p.Gly321Ala, NP_001138863.1:p.Gly238Ala

Select item 146870928114.

rs1468709281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25791143 (GRCh38)
3:25832634 (GRCh37)
Canonical SPDI:: NC_000003.12:25791142:T:C
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.25791143T>C, NC_000003.11:g.25832634T>C, NG_034108.1:g.3897A>G, XM_006713216.5:c.123T>C, XM_006713216.4:c.123T>C, XM_006713216.3:c.123T>C, XM_006713216.2:c.123T>C, XM_006713216.1:c.123T>C, XM_006713217.5:c.-249T>C, XM_006713217.4:c.-249T>C, XM_006713217.3:c.-249T>C, XM_006713217.2:c.-249T>C, XM_006713217.1:c.-249T>C, NM_017897.3:c.123T>C, NM_017897.2:c.123T>C, NM_001145391.2:c.123T>C, NM_001145391.1:c.123T>C, NR_026937.2:n.212T>C, NR_026937.1:n.230T>C

Select item 146731274215.

rs1467312742 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:25791473 (GRCh38)
3:25832964 (GRCh37)
Canonical SPDI:: NC_000003.12:25791472:C:
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25791473del, NC_000003.11:g.25832964del, NG_034108.1:g.3567del, XM_006713216.5:c.453del, XM_006713216.4:c.453del, XM_006713216.3:c.453del, XM_006713216.2:c.453del, XM_006713216.1:c.453del, NM_017897.3:c.453del, NM_017897.2:c.453del, NM_001145391.2:c.453del, NM_001145391.1:c.453del, XP_006713279.1:p.Met152fs, NP_060367.1:p.Met152fs, NP_001138863.1:p.Met152fs

Select item 146633431916.

rs1466334319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:25791971 (GRCh38)
3:25833462 (GRCh37)
Canonical SPDI:: NC_000003.12:25791970:T:G
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25791971T>G, NC_000003.11:g.25833462T>G, NG_034108.1:g.3069A>C, XM_006713216.5:c.951T>G, XM_006713216.4:c.951T>G, XM_006713216.3:c.951T>G, XM_006713216.2:c.951T>G, XM_006713216.1:c.951T>G, XM_006713217.5:c.126T>G, XM_006713217.4:c.126T>G, XM_006713217.3:c.126T>G, XM_006713217.2:c.126T>G, XM_006713217.1:c.126T>G, NM_017897.3:c.951T>G, NM_017897.2:c.951T>G, NM_001145391.2:c.702T>G, NM_001145391.1:c.702T>G, NR_026937.2:n.586T>G, NR_026937.1:n.604T>G

Select item 146559014617.

rs1465590146 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:25791108 (GRCh38)
3:25832599 (GRCh37)
Canonical SPDI:: NC_000003.12:25791107:AA:
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25791108_25791109del, NC_000003.11:g.25832599_25832600del, NG_034108.1:g.3931_3932del, XM_006713216.5:c.88_89del, XM_006713216.4:c.88_89del, XM_006713216.3:c.88_89del, XM_006713216.2:c.88_89del, XM_006713216.1:c.88_89del, XM_006713217.5:c.-284_-283del, XM_006713217.4:c.-284_-283del, XM_006713217.3:c.-284_-283del, XM_006713217.2:c.-284_-283del, XM_006713217.1:c.-284_-283del, NM_017897.3:c.88_89del, NM_017897.2:c.88_89del, NM_001145391.2:c.88_89del, NM_001145391.1:c.88_89del, NR_026937.2:n.177_178del, NR_026937.1:n.195_196del, XP_006713279.1:p.Lys30fs, NP_060367.1:p.Lys30fs, NP_001138863.1:p.Lys30fs

Select item 146273680518.

rs1462736805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25791150 (GRCh38)
3:25832641 (GRCh37)
Canonical SPDI:: NC_000003.12:25791149:G:A
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25791150G>A, NC_000003.11:g.25832641G>A, NG_034108.1:g.3890C>T, XM_006713216.5:c.130G>A, XM_006713216.4:c.130G>A, XM_006713216.3:c.130G>A, XM_006713216.2:c.130G>A, XM_006713216.1:c.130G>A, XM_006713217.5:c.-242G>A, XM_006713217.4:c.-242G>A, XM_006713217.3:c.-242G>A, XM_006713217.2:c.-242G>A, XM_006713217.1:c.-242G>A, NM_017897.3:c.130G>A, NM_017897.2:c.130G>A, NM_001145391.2:c.130G>A, NM_001145391.1:c.130G>A, NR_026937.2:n.219G>A, NR_026937.1:n.237G>A, XP_006713279.1:p.Val44Ile, NP_060367.1:p.Val44Ile, NP_001138863.1:p.Val44Ile

Select item 145123396019.

rs1451233960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25791921 (GRCh38)
3:25833412 (GRCh37)
Canonical SPDI:: NC_000003.12:25791920:G:A
Gene:: OXSM (Varview), NGLY1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.25791921G>A, NC_000003.11:g.25833412G>A, NG_034108.1:g.3119C>T, XM_006713216.5:c.901G>A, XM_006713216.4:c.901G>A, XM_006713216.3:c.901G>A, XM_006713216.2:c.901G>A, XM_006713216.1:c.901G>A, XM_006713217.5:c.76G>A, XM_006713217.4:c.76G>A, XM_006713217.3:c.76G>A, XM_006713217.2:c.76G>A, XM_006713217.1:c.76G>A, NM_017897.3:c.901G>A, NM_017897.2:c.901G>A, NR_026937.2:n.536G>A, NR_026937.1:n.554G>A, XP_006713279.1:p.Glu301Lys, XP_006713280.1:p.Glu26Lys, NP_060367.1:p.Glu301Lys

Select item 145055262320.

rs1450552623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25794142 (GRCh38)
3:25835633 (GRCh37)
Canonical SPDI:: NC_000003.12:25794141:C:T
Gene:: OXSM (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000003.12:g.25794142C>T, NC_000003.11:g.25835633C>T, NG_034108.1:g.898G>A, XM_006713216.5:c.1028C>T, XM_006713216.4:c.1028C>T, XM_006713216.3:c.1028C>T, XM_006713216.2:c.1028C>T, XM_006713216.1:c.1028C>T, XM_006713217.5:c.203C>T, XM_006713217.4:c.203C>T, XM_006713217.3:c.203C>T, XM_006713217.2:c.203C>T, XM_006713217.1:c.203C>T, NM_017897.3:c.1028C>T, NM_017897.2:c.1028C>T, NM_001145391.2:c.779C>T, NM_001145391.1:c.779C>T, NR_026937.2:n.663C>T, NR_026937.1:n.681C>T, XP_006713279.1:p.Ser343Phe, XP_006713280.1:p.Ser68Phe, NP_060367.1:p.Ser343Phe, NP_001138863.1:p.Ser260Phe

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 454

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity