SNP Links for Protein (Select 31377775) - SNP

Links from Protein

Items: 1 to 20 of 390

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Select item 14904976341.

rs1490497634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:121048728 (GRCh38)
X:120182582 (GRCh37)
Canonical SPDI:: NC_000023.11:121048727:G:A
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.121048728G>A, NC_000023.10:g.120182582G>A, NG_016456.1:g.6121G>A, NM_012084.4:c.1044G>A, NM_012084.3:c.1044G>A, NW_021160027.1:g.368131G>A

Select item 14898356482.

rs1489835648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:121048784 (GRCh38)
X:120182638 (GRCh37)
Canonical SPDI:: NC_000023.11:121048783:A:G
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.00036/5 (TOMMO)
G=0.000685/2 (KOREAN)
HGVS:: NC_000023.11:g.121048784A>G, NC_000023.10:g.120182638A>G, NG_016456.1:g.6177A>G, NM_012084.4:c.1100A>G, NM_012084.3:c.1100A>G, NW_021160027.1:g.368187A>G, NP_036216.2:p.Tyr367Cys

Select item 14896458253.

rs1489645825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:121048005 (GRCh38)
X:120181859 (GRCh37)
Canonical SPDI:: NC_000023.11:121048004:G:T
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.121048005G>T, NC_000023.10:g.120181859G>T, NG_016456.1:g.5398G>T, NM_012084.4:c.321G>T, NM_012084.3:c.321G>T, NW_021160027.1:g.367408G>T

Select item 14815571174.

rs1481557117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:121048578 (GRCh38)
X:120182432 (GRCh37)
Canonical SPDI:: NC_000023.11:121048577:G:A
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.121048578G>A, NC_000023.10:g.120182432G>A, NG_016456.1:g.5971G>A, NM_012084.4:c.894G>A, NM_012084.3:c.894G>A, NW_021160027.1:g.367981G>A

Select item 14811975625.

rs1481197562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:121049245 (GRCh38)
X:120183099 (GRCh37)
Canonical SPDI:: NC_000023.11:121049244:A:G
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.121049245A>G, NC_000023.10:g.120183099A>G, NG_016456.1:g.6638A>G, NM_012084.4:c.1561A>G, NM_012084.3:c.1561A>G, NW_021160027.1:g.368648A>G, NP_036216.2:p.Ile521Val

Select item 14806294966.

rs1480629496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:121048534 (GRCh38)
X:120182388 (GRCh37)
Canonical SPDI:: NC_000023.11:121048533:A:G
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.121048534A>G, NC_000023.10:g.120182388A>G, NG_016456.1:g.5927A>G, NM_012084.4:c.850A>G, NM_012084.3:c.850A>G, NW_021160027.1:g.367937A>G, NP_036216.2:p.Ile284Val

Select item 14803265237.

rs1480326523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:121048206 (GRCh38)
X:120182060 (GRCh37)
Canonical SPDI:: NC_000023.11:121048205:G:A
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.121048206G>A, NC_000023.10:g.120182060G>A, NG_016456.1:g.5599G>A, NM_012084.4:c.522G>A, NM_012084.3:c.522G>A, NW_021160027.1:g.367609G>A

Select item 14773359878.

rs1477335987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:121047940 (GRCh38)
X:120181794 (GRCh37)
Canonical SPDI:: NC_000023.11:121047939:G:C
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.121047940G>C, NC_000023.10:g.120181794G>C, NG_016456.1:g.5333G>C, NM_012084.4:c.256G>C, NM_012084.3:c.256G>C, NW_021160027.1:g.367343G>C, NP_036216.2:p.Val86Leu

Select item 14756576569.

rs1475657656 [Homo sapiens]

Variant type:: DEL
Alleles:: GTGTGACCTTCACAT>- [Show Flanks]
Chromosome:: X:121049345 (GRCh38)
X:120183199 (GRCh37)
Canonical SPDI:: NC_000023.11:121049344:GTGTGACCTTCACAT:
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,terminator_codon_variant,inframe_indel,stop_lost
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.121049345_121049359del, NC_000023.10:g.120183199_120183213del, NG_016456.1:g.6738_6752del, NM_012084.4:c.1661_1675del, NM_012084.3:c.1661_1675del, NW_021160027.1:g.368748_368762del, NP_036216.2:p.Gly554_Ter559delinsGlu

Select item 147281565310.

rs1472815653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:121049326 (GRCh38)
X:120183180 (GRCh37)
Canonical SPDI:: NC_000023.11:121049325:A:C
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.121049326A>C, NC_000023.10:g.120183180A>C, NG_016456.1:g.6719A>C, NM_012084.4:c.1642A>C, NM_012084.3:c.1642A>C, NW_021160027.1:g.368729A>C, NP_036216.2:p.Lys548Gln

Select item 147110906611.

rs1471109066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:121049108 (GRCh38)
X:120182962 (GRCh37)
Canonical SPDI:: NC_000023.11:121049107:A:G
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.121049108A>G, NC_000023.10:g.120182962A>G, NG_016456.1:g.6501A>G, NM_012084.4:c.1424A>G, NM_012084.3:c.1424A>G, NW_021160027.1:g.368511A>G, NP_036216.2:p.Glu475Gly

Select item 146945796312.

rs1469457963 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATA [Show Flanks]
Chromosome:: X:121049265 (GRCh38)
X:120183120 (GRCh37)
Canonical SPDI:: NC_000023.11:121049265:TATA:TATATATA
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: upstream_transcript_variant,stop_gained,coding_sequence_variant,inframe_indel,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TATA=0.000008/2 (TOPMED)
TATA=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.121049266TA[4], NC_000023.10:g.120183120TA[4], NG_016456.1:g.6659TA[4], NM_012084.4:c.1582_1585dup, NM_012084.3:c.1582_1585dup, NW_021160027.1:g.368669TA[4], NP_036216.2:p.Asn529delinsIleTer

Select item 146788526913.

rs1467885269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:121049042 (GRCh38)
X:120182896 (GRCh37)
Canonical SPDI:: NC_000023.11:121049041:G:A
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.121049042G>A, NC_000023.10:g.120182896G>A, NG_016456.1:g.6435G>A, NM_012084.4:c.1358G>A, NM_012084.3:c.1358G>A, NW_021160027.1:g.368445G>A, NP_036216.2:p.Arg453His

Select item 146396302614.

rs1463963026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:121048629 (GRCh38)
X:120182483 (GRCh37)
Canonical SPDI:: NC_000023.11:121048628:C:T
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.121048629C>T, NC_000023.10:g.120182483C>T, NG_016456.1:g.6022C>T, NM_012084.4:c.945C>T, NM_012084.3:c.945C>T, NW_021160027.1:g.368032C>T

Select item 146209790015.

rs1462097900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:121049024 (GRCh38)
X:120182878 (GRCh37)
Canonical SPDI:: NC_000023.11:121049023:A:G
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.121049024A>G, NC_000023.10:g.120182878A>G, NG_016456.1:g.6417A>G, NM_012084.4:c.1340A>G, NM_012084.3:c.1340A>G, NW_021160027.1:g.368427A>G, NP_036216.2:p.Asn447Ser

Select item 146195129716.

rs1461951297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:121047833 (GRCh38)
X:120181687 (GRCh37)
Canonical SPDI:: NC_000023.11:121047832:G:A,NC_000023.11:121047832:G:C
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000011/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.121047833G>A, NC_000023.11:g.121047833G>C, NC_000023.10:g.120181687G>A, NC_000023.10:g.120181687G>C, NG_016456.1:g.5226G>A, NG_016456.1:g.5226G>C, NM_012084.4:c.149G>A, NM_012084.4:c.149G>C, NM_012084.3:c.149G>A, NM_012084.3:c.149G>C, NW_021160027.1:g.367236G>A, NW_021160027.1:g.367236G>C, NP_036216.2:p.Arg50Gln, NP_036216.2:p.Arg50Pro

Select item 145997667717.

rs1459976677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:121048091 (GRCh38)
X:120181945 (GRCh37)
Canonical SPDI:: NC_000023.11:121048090:G:A,NC_000023.11:121048090:G:C
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.121048091G>A, NC_000023.11:g.121048091G>C, NC_000023.10:g.120181945G>A, NC_000023.10:g.120181945G>C, NG_016456.1:g.5484G>A, NG_016456.1:g.5484G>C, NM_012084.4:c.407G>A, NM_012084.4:c.407G>C, NM_012084.3:c.407G>A, NM_012084.3:c.407G>C, NW_021160027.1:g.367494G>A, NW_021160027.1:g.367494G>C, NP_036216.2:p.Arg136Gln, NP_036216.2:p.Arg136Pro

Select item 145632534418.

rs1456325344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:121048441 (GRCh38)
X:120182295 (GRCh37)
Canonical SPDI:: NC_000023.11:121048440:G:T
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.121048441G>T, NC_000023.10:g.120182295G>T, NG_016456.1:g.5834G>T, NM_012084.4:c.757G>T, NM_012084.3:c.757G>T, NW_021160027.1:g.367844G>T, NP_036216.2:p.Ala253Ser

Select item 145431329819.

rs1454313298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:121048369 (GRCh38)
X:120182223 (GRCh37)
Canonical SPDI:: NC_000023.11:121048368:G:C
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.121048369G>C, NC_000023.10:g.120182223G>C, NG_016456.1:g.5762G>C, NM_012084.4:c.685G>C, NM_012084.3:c.685G>C, NW_021160027.1:g.367772G>C, NP_036216.2:p.Gly229Arg

Select item 145223139820.

rs1452231398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:121048376 (GRCh38)
X:120182230 (GRCh37)
Canonical SPDI:: NC_000023.11:121048375:G:A
Gene:: GLUD2 (Varview), LOC105373328 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.121048376G>A, NC_000023.10:g.120182230G>A, NG_016456.1:g.5769G>A, NM_012084.4:c.692G>A, NM_012084.3:c.692G>A, NW_021160027.1:g.367779G>A, NP_036216.2:p.Arg231Gln

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