SNP Links for Protein (Select 60593056) - SNP

Links from Protein

Items: 1 to 20 of 149

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Select item 14814431121.

rs1481443112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:568168 (GRCh38)
16:618168 (GRCh37)
Canonical SPDI:: NC_000016.10:568167:G:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_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_000016.10:g.568168G>T, NC_000016.9:g.618168G>T, NG_034206.1:g.3201G>T, NM_176677.3:c.121G>T, NM_176677.2:c.121G>T, NM_176677.1:c.121G>T, NM_001301159.2:c.121G>T, NM_001301159.1:c.121G>T, NP_788850.1:p.Gly41Trp, NP_001288088.1:p.Gly41Trp

Select item 14802474452.

rs1480247445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:568176 (GRCh38)
16:618176 (GRCh37)
Canonical SPDI:: NC_000016.10:568175:G:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.568176G>A, NC_000016.9:g.618176G>A, NG_034206.1:g.3209G>A, NM_176677.3:c.129G>A, NM_176677.2:c.129G>A, NM_176677.1:c.129G>A, NM_001301159.2:c.129G>A, NM_001301159.1:c.129G>A, NP_788850.1:p.Trp43Ter, NP_001288088.1:p.Trp43Ter

Select item 14745159813.

rs1474515981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:568117 (GRCh38)
16:618117 (GRCh37)
Canonical SPDI:: NC_000016.10:568116:T:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.568117T>A, NC_000016.9:g.618117T>A, NG_034206.1:g.3150T>A, NM_176677.3:c.70T>A, NM_176677.2:c.70T>A, NM_176677.1:c.70T>A, NM_001301159.2:c.70T>A, NM_001301159.1:c.70T>A, NP_788850.1:p.Phe24Ile, NP_001288088.1:p.Phe24Ile

Select item 14712164884.

rs1471216488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:568205 (GRCh38)
16:618205 (GRCh37)
Canonical SPDI:: NC_000016.10:568204:G:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.568205G>A, NC_000016.9:g.618205G>A, NG_034206.1:g.3238G>A, NM_176677.3:c.158G>A, NM_176677.2:c.158G>A, NM_176677.1:c.158G>A, NM_001301159.2:c.158G>A, NM_001301159.1:c.158G>A, NP_788850.1:p.Gly53Asp, NP_001288088.1:p.Gly53Asp

Select item 14667734945.

rs1466773494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:568382 (GRCh38)
16:618382 (GRCh37)
Canonical SPDI:: NC_000016.10:568381:C:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.568382C>A, NC_000016.9:g.618382C>A, NG_034206.1:g.3415C>A, NM_176677.3:c.335C>A, NM_176677.2:c.335C>A, NM_176677.1:c.335C>A, NM_001301159.2:c.335C>A, NM_001301159.1:c.335C>A, NP_788850.1:p.Ser112Tyr, NP_001288088.1:p.Ser112Tyr

Select item 14578730556.

rs1457873055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:568097 (GRCh38)
16:618097 (GRCh37)
Canonical SPDI:: NC_000016.10:568096:G:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.568097G>A, NC_000016.9:g.618097G>A, NG_034206.1:g.3130G>A, NM_176677.3:c.50G>A, NM_176677.2:c.50G>A, NM_176677.1:c.50G>A, NM_001301159.2:c.50G>A, NM_001301159.1:c.50G>A, NP_788850.1:p.Gly17Asp, NP_001288088.1:p.Gly17Asp

Select item 14545458317.

rs1454545831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:568145 (GRCh38)
16:618145 (GRCh37)
Canonical SPDI:: NC_000016.10:568144:C:A,NC_000016.10:568144:C:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.568145C>A, NC_000016.10:g.568145C>T, NC_000016.9:g.618145C>A, NC_000016.9:g.618145C>T, NG_034206.1:g.3178C>A, NG_034206.1:g.3178C>T, NM_176677.3:c.98C>A, NM_176677.3:c.98C>T, NM_176677.2:c.98C>A, NM_176677.2:c.98C>T, NM_176677.1:c.98C>A, NM_176677.1:c.98C>T, NM_001301159.2:c.98C>A, NM_001301159.2:c.98C>T, NM_001301159.1:c.98C>A, NM_001301159.1:c.98C>T, NP_788850.1:p.Ala33Asp, NP_788850.1:p.Ala33Val, NP_001288088.1:p.Ala33Asp, NP_001288088.1:p.Ala33Val

Select item 14531843018.

rs1453184301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:568248 (GRCh38)
16:618248 (GRCh37)
Canonical SPDI:: NC_000016.10:568247:G:C
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.568248G>C, NC_000016.9:g.618248G>C, NG_034206.1:g.3281G>C, NM_176677.3:c.201G>C, NM_176677.2:c.201G>C, NM_176677.1:c.201G>C, NM_001301159.2:c.201G>C, NM_001301159.1:c.201G>C, NP_788850.1:p.Glu67Asp, NP_001288088.1:p.Glu67Asp

Select item 14515800979.

rs1451580097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:568239 (GRCh38)
16:618239 (GRCh37)
Canonical SPDI:: NC_000016.10:568238:G:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.568239G>A, NC_000016.9:g.618239G>A, NG_034206.1:g.3272G>A, NM_176677.3:c.192G>A, NM_176677.2:c.192G>A, NM_176677.1:c.192G>A, NM_001301159.2:c.192G>A, NM_001301159.1:c.192G>A

Select item 144867814510.

rs1448678145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:568223 (GRCh38)
16:618223 (GRCh37)
Canonical SPDI:: NC_000016.10:568222:A:G
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.568223A>G, NC_000016.9:g.618223A>G, NG_034206.1:g.3256A>G, NM_176677.3:c.176A>G, NM_176677.2:c.176A>G, NM_176677.1:c.176A>G, NM_001301159.2:c.176A>G, NM_001301159.1:c.176A>G, NP_788850.1:p.Glu59Gly, NP_001288088.1:p.Glu59Gly

Select item 144382244311.

rs1443822443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:568289 (GRCh38)
16:618289 (GRCh37)
Canonical SPDI:: NC_000016.10:568288:C:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.568289C>T, NC_000016.9:g.618289C>T, NG_034206.1:g.3322C>T, NM_176677.3:c.242C>T, NM_176677.2:c.242C>T, NM_176677.1:c.242C>T, NM_001301159.2:c.242C>T, NM_001301159.1:c.242C>T, NP_788850.1:p.Pro81Leu, NP_001288088.1:p.Pro81Leu

Select item 143388001112.

rs1433880011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:568226 (GRCh38)
16:618226 (GRCh37)
Canonical SPDI:: NC_000016.10:568225:G:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.568226G>A, NC_000016.9:g.618226G>A, NG_034206.1:g.3259G>A, NM_176677.3:c.179G>A, NM_176677.2:c.179G>A, NM_176677.1:c.179G>A, NM_001301159.2:c.179G>A, NM_001301159.1:c.179G>A, NP_788850.1:p.Gly60Asp, NP_001288088.1:p.Gly60Asp

Select item 142397524713.

rs1423975247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:568359 (GRCh38)
16:618359 (GRCh37)
Canonical SPDI:: NC_000016.10:568358:G:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.568359G>A, NC_000016.9:g.618359G>A, NG_034206.1:g.3392G>A, NM_176677.3:c.312G>A, NM_176677.2:c.312G>A, NM_176677.1:c.312G>A, NM_001301159.2:c.312G>A, NM_001301159.1:c.312G>A

Select item 142359011814.

rs1423590118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:568250 (GRCh38)
16:618250 (GRCh37)
Canonical SPDI:: NC_000016.10:568249:A:G
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.568250A>G, NC_000016.9:g.618250A>G, NG_034206.1:g.3283A>G, NM_176677.3:c.203A>G, NM_176677.2:c.203A>G, NM_176677.1:c.203A>G, NM_001301159.2:c.203A>G, NM_001301159.1:c.203A>G, NP_788850.1:p.Gln68Arg, NP_001288088.1:p.Gln68Arg

Select item 141057219815.

rs1410572198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:568285 (GRCh38)
16:618285 (GRCh37)
Canonical SPDI:: NC_000016.10:568284:C:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_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_000016.10:g.568285C>T, NC_000016.9:g.618285C>T, NG_034206.1:g.3318C>T, NM_176677.3:c.238C>T, NM_176677.2:c.238C>T, NM_176677.1:c.238C>T, NM_001301159.2:c.238C>T, NM_001301159.1:c.238C>T, NP_788850.1:p.Pro80Ser, NP_001288088.1:p.Pro80Ser

Select item 140593857316.

rs1405938573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:568388 (GRCh38)
16:618388 (GRCh37)
Canonical SPDI:: NC_000016.10:568387:A:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.568388A>T, NC_000016.9:g.618388A>T, NG_034206.1:g.3421A>T, NM_176677.3:c.341A>T, NM_176677.2:c.341A>T, NM_176677.1:c.341A>T, NM_001301159.2:c.341A>T, NM_001301159.1:c.341A>T, NP_788850.1:p.Lys114Met, NP_001288088.1:p.Lys114Met

Select item 138689587317.

rs1386895873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:568258 (GRCh38)
16:618258 (GRCh37)
Canonical SPDI:: NC_000016.10:568257:C:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.568258C>T, NC_000016.9:g.618258C>T, NG_034206.1:g.3291C>T, NM_176677.3:c.211C>T, NM_176677.2:c.211C>T, NM_176677.1:c.211C>T, NM_001301159.2:c.211C>T, NM_001301159.1:c.211C>T, NP_788850.1:p.Gln71Ter, NP_001288088.1:p.Gln71Ter

Select item 138614875218.

rs1386148752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:568156 (GRCh38)
16:618156 (GRCh37)
Canonical SPDI:: NC_000016.10:568155:C:G
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.568156C>G, NC_000016.9:g.618156C>G, NG_034206.1:g.3189C>G, NM_176677.3:c.109C>G, NM_176677.2:c.109C>G, NM_176677.1:c.109C>G, NM_001301159.2:c.109C>G, NM_001301159.1:c.109C>G, NP_788850.1:p.Leu37Val, NP_001288088.1:p.Leu37Val

Select item 138026873319.

rs1380268733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:568066 (GRCh38)
16:618066 (GRCh37)
Canonical SPDI:: NC_000016.10:568065:C:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.568066C>A, NC_000016.9:g.618066C>A, NG_034206.1:g.3099C>A, NM_176677.3:c.19C>A, NM_176677.2:c.19C>A, NM_176677.1:c.19C>A, NM_001301159.2:c.19C>A, NM_001301159.1:c.19C>A, NP_788850.1:p.Pro7Thr, NP_001288088.1:p.Pro7Thr

Select item 137084329120.

rs1370843291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:568379 (GRCh38)
16:618379 (GRCh37)
Canonical SPDI:: NC_000016.10:568378:A:G
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.568379A>G, NC_000016.9:g.618379A>G, NG_034206.1:g.3412A>G, NM_176677.3:c.332A>G, NM_176677.2:c.332A>G, NM_176677.1:c.332A>G, NM_001301159.2:c.332A>G, NM_001301159.1:c.332A>G, NP_788850.1:p.Asn111Ser, NP_001288088.1:p.Asn111Ser

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