SNP Links for Protein (Select 767996348) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:76073772 (GRCh38)
17:74069853 (GRCh37)
Canonical SPDI:: NC_000017.11:76073771:G:C
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76073772G>C, NC_000017.10:g.74069853G>C, XM_011525427.4:c.4G>C, XM_011525427.3:c.4G>C, XM_011525427.2:c.4G>C, XM_011525427.1:c.4G>C, XM_047436984.1:c.4G>C, XP_011523729.1:p.Glu2Gln, XP_047292940.1:p.Glu2Gln

Select item 14826383176.

rs1482638317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76076845 (GRCh38)
17:74072926 (GRCh37)
Canonical SPDI:: NC_000017.11:76076844:T:C
Gene:: GALR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76076845T>C, NC_000017.10:g.74072926T>C, NM_003857.4:c.578T>C, NM_003857.3:c.578T>C, NM_003857.2:c.578T>C, XM_011525427.4:c.407T>C, XM_011525427.3:c.407T>C, XM_011525427.2:c.407T>C, XM_011525427.1:c.407T>C, XM_047436984.1:c.407T>C, NP_003848.1:p.Val193Ala, XP_011523729.1:p.Val136Ala, XP_047292940.1:p.Val136Ala

Select item 14810091057.

rs1481009105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:76075178 (GRCh38)
17:74071259 (GRCh37)
Canonical SPDI:: NC_000017.11:76075177:A:T
Gene:: GALR2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76075178A>T, NC_000017.10:g.74071259A>T, NM_003857.4:c.295A>T, NM_003857.3:c.295A>T, NM_003857.2:c.295A>T, XM_011525427.4:c.124A>T, XM_011525427.3:c.124A>T, XM_011525427.2:c.124A>T, XM_011525427.1:c.124A>T, XM_047436984.1:c.124A>T, NP_003848.1:p.Lys99Ter, XP_011523729.1:p.Lys42Ter, XP_047292940.1:p.Lys42Ter

Select item 14796162398.

rs1479616239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76077034 (GRCh38)
17:74073115 (GRCh37)
Canonical SPDI:: NC_000017.11:76077033:T:C
Gene:: GALR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76077034T>C, NC_000017.10:g.74073115T>C, NM_003857.4:c.767T>C, NM_003857.3:c.767T>C, NM_003857.2:c.767T>C, XM_011525427.4:c.596T>C, XM_011525427.3:c.596T>C, XM_011525427.2:c.596T>C, XM_011525427.1:c.596T>C, XM_047436984.1:c.596T>C, NP_003848.1:p.Ile256Thr, XP_011523729.1:p.Ile199Thr, XP_047292940.1:p.Ile199Thr

Select item 14794551319.

rs1479455131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76077127 (GRCh38)
17:74073208 (GRCh37)
Canonical SPDI:: NC_000017.11:76077126:T:C
Gene:: GALR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76077127T>C, NC_000017.10:g.74073208T>C, NM_003857.4:c.860T>C, NM_003857.3:c.860T>C, NM_003857.2:c.860T>C, XM_011525427.4:c.689T>C, XM_011525427.3:c.689T>C, XM_011525427.2:c.689T>C, XM_011525427.1:c.689T>C, XM_047436984.1:c.689T>C, NP_003848.1:p.Val287Ala, XP_011523729.1:p.Val230Ala, XP_047292940.1:p.Val230Ala

Select item 147797100910.

rs1477971009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:76076676 (GRCh38)
17:74072757 (GRCh37)
Canonical SPDI:: NC_000017.11:76076675:C:A
Gene:: GALR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76076676C>A, NC_000017.10:g.74072757C>A, NM_003857.4:c.409C>A, NM_003857.3:c.409C>A, NM_003857.2:c.409C>A, XM_011525427.4:c.238C>A, XM_011525427.3:c.238C>A, XM_011525427.2:c.238C>A, XM_011525427.1:c.238C>A, XM_047436984.1:c.238C>A, NP_003848.1:p.Arg137Ser, XP_011523729.1:p.Arg80Ser, XP_047292940.1:p.Arg80Ser

Select item 147572569811.

rs1475725698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:76076939 (GRCh38)
17:74073020 (GRCh37)
Canonical SPDI:: NC_000017.11:76076938:C:A
Gene:: GALR2 (Varview)
Functional Consequence:: synonymous_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_000017.11:g.76076939C>A, NC_000017.10:g.74073020C>A, NM_003857.4:c.672C>A, NM_003857.3:c.672C>A, NM_003857.2:c.672C>A, XM_011525427.4:c.501C>A, XM_011525427.3:c.501C>A, XM_011525427.2:c.501C>A, XM_011525427.1:c.501C>A, XM_047436984.1:c.501C>A

Select item 146801446112.

rs1468014461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:76077314 (GRCh38)
17:74073395 (GRCh37)
Canonical SPDI:: NC_000017.11:76077313:G:T
Gene:: GALR2 (Varview), ZACN (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76077314G>T, NC_000017.10:g.74073395G>T, NM_003857.4:c.1047G>T, NM_003857.3:c.1047G>T, NM_003857.2:c.1047G>T, XM_011525427.4:c.876G>T, XM_011525427.3:c.876G>T, XM_011525427.2:c.876G>T, XM_011525427.1:c.876G>T, XM_047436984.1:c.876G>T

Select item 146549916113.

rs1465499161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76073834 (GRCh38)
17:74069915 (GRCh37)
Canonical SPDI:: NC_000017.11:76073833:C:T
Gene:: SRP68 (Varview), GALR2 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.76073834C>T, NC_000017.10:g.74069915C>T, XM_011525427.4:c.66C>T, XM_011525427.3:c.66C>T, XM_011525427.2:c.66C>T, XM_011525427.1:c.66C>T, XM_047436984.1:c.66C>T

Select item 146474620514.

rs1464746205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:76076663 (GRCh38)
17:74072744 (GRCh37)
Canonical SPDI:: NC_000017.11:76076662:C:A
Gene:: GALR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.76076663C>A, NC_000017.10:g.74072744C>A, NM_003857.4:c.396C>A, NM_003857.3:c.396C>A, NM_003857.2:c.396C>A, XM_011525427.4:c.225C>A, XM_011525427.3:c.225C>A, XM_011525427.2:c.225C>A, XM_011525427.1:c.225C>A, XM_047436984.1:c.225C>A, NP_003848.1:p.His132Gln, XP_011523729.1:p.His75Gln, XP_047292940.1:p.His75Gln

Select item 146368539515.

rs1463685395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76075163 (GRCh38)
17:74071244 (GRCh37)
Canonical SPDI:: NC_000017.11:76075162:G:A
Gene:: GALR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76075163G>A, NC_000017.10:g.74071244G>A, NM_003857.4:c.280G>A, NM_003857.3:c.280G>A, NM_003857.2:c.280G>A, XM_011525427.4:c.109G>A, XM_011525427.3:c.109G>A, XM_011525427.2:c.109G>A, XM_011525427.1:c.109G>A, XM_047436984.1:c.109G>A, NP_003848.1:p.Gly94Ser, XP_011523729.1:p.Gly37Ser, XP_047292940.1:p.Gly37Ser

Select item 146143205416.

rs1461432054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76077254 (GRCh38)
17:74073335 (GRCh37)
Canonical SPDI:: NC_000017.11:76077253:C:T
Gene:: GALR2 (Varview), ZACN (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.76077254C>T, NC_000017.10:g.74073335C>T, NM_003857.4:c.987C>T, NM_003857.3:c.987C>T, NM_003857.2:c.987C>T, XM_011525427.4:c.816C>T, XM_011525427.3:c.816C>T, XM_011525427.2:c.816C>T, XM_011525427.1:c.816C>T, XM_047436984.1:c.816C>T

Select item 145851608217.

rs1458516082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:76077280 (GRCh38)
17:74073361 (GRCh37)
Canonical SPDI:: NC_000017.11:76077279:A:G
Gene:: GALR2 (Varview), ZACN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.76077280A>G, NC_000017.10:g.74073361A>G, NM_003857.4:c.1013A>G, NM_003857.3:c.1013A>G, NM_003857.2:c.1013A>G, XM_011525427.4:c.842A>G, XM_011525427.3:c.842A>G, XM_011525427.2:c.842A>G, XM_011525427.1:c.842A>G, XM_047436984.1:c.842A>G, NP_003848.1:p.Glu338Gly, XP_011523729.1:p.Glu281Gly, XP_047292940.1:p.Glu281Gly

Select item 145686718418.

rs1456867184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:76076744 (GRCh38)
17:74072825 (GRCh37)
Canonical SPDI:: NC_000017.11:76076743:C:A
Gene:: GALR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76076744C>A, NC_000017.10:g.74072825C>A, NM_003857.4:c.477C>A, NM_003857.3:c.477C>A, NM_003857.2:c.477C>A, XM_011525427.4:c.306C>A, XM_011525427.3:c.306C>A, XM_011525427.2:c.306C>A, XM_011525427.1:c.306C>A, XM_047436984.1:c.306C>A

Select item 145527384019.

rs1455273840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76075192 (GRCh38)
17:74071273 (GRCh37)
Canonical SPDI:: NC_000017.11:76075191:C:T
Gene:: GALR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.76075192C>T, NC_000017.10:g.74071273C>T, NM_003857.4:c.309C>T, NM_003857.3:c.309C>T, NM_003857.2:c.309C>T, XM_011525427.4:c.138C>T, XM_011525427.3:c.138C>T, XM_011525427.2:c.138C>T, XM_011525427.1:c.138C>T, XM_047436984.1:c.138C>T

Select item 145505434320.

rs1455054343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:76075157 (GRCh38)
17:74071238 (GRCh37)
Canonical SPDI:: NC_000017.11:76075156:G:A,NC_000017.11:76075156:G:T
Gene:: GALR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76075157G>A, NC_000017.11:g.76075157G>T, NC_000017.10:g.74071238G>A, NC_000017.10:g.74071238G>T, NM_003857.4:c.274G>A, NM_003857.4:c.274G>T, NM_003857.3:c.274G>A, NM_003857.3:c.274G>T, NM_003857.2:c.274G>A, NM_003857.2:c.274G>T, XM_011525427.4:c.103G>A, XM_011525427.4:c.103G>T, XM_011525427.3:c.103G>A, XM_011525427.3:c.103G>T, XM_011525427.2:c.103G>A, XM_011525427.2:c.103G>T, XM_011525427.1:c.103G>A, XM_011525427.1:c.103G>T, XM_047436984.1:c.103G>A, XM_047436984.1:c.103G>T, NP_003848.1:p.Val92Met, NP_003848.1:p.Val92Leu, XP_011523729.1:p.Val35Met, XP_011523729.1:p.Val35Leu, XP_047292940.1:p.Val35Met, XP_047292940.1:p.Val35Leu

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