SNP Links for Protein (Select 1034656555) - SNP

Links from Protein

Items: 1 to 20 of 378

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Select item 14833620051.

rs1483362005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:71571298 (GRCh38)
7:71036283 (GRCh37)
Canonical SPDI:: NC_000007.14:71571297:A:G
Gene:: GALNT17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.71571298A>G, NC_000007.13:g.71036283A>G, XM_011516467.4:c.976A>G, XM_011516467.3:c.976A>G, XM_011516467.2:c.976A>G, XM_011516467.1:c.976A>G, XM_017012521.3:c.976A>G, XM_017012521.2:c.976A>G, XM_017012521.1:c.976A>G, NM_022479.3:c.976A>G, NM_022479.2:c.976A>G, XP_011514769.1:p.Ile326Val, XP_016868010.1:p.Ile326Val, NP_071924.1:p.Ile326Val

Select item 14771794822.

rs1477179482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:71415958 (GRCh38)
7:70880944 (GRCh37)
Canonical SPDI:: NC_000007.14:71415957:A:G
Gene:: GALNT17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.71415958A>G, NC_000007.13:g.70880944A>G, XM_011516467.4:c.659A>G, XM_011516467.3:c.659A>G, XM_011516467.2:c.659A>G, XM_011516467.1:c.659A>G, XM_011516469.4:c.659A>G, XM_011516469.3:c.659A>G, XM_011516469.2:c.659A>G, XM_011516469.1:c.659A>G, XM_017012521.3:c.659A>G, XM_017012521.2:c.659A>G, XM_017012521.1:c.659A>G, NM_022479.3:c.659A>G, NM_022479.2:c.659A>G, XP_011514769.1:p.Asn220Ser, XP_011514771.1:p.Asn220Ser, XP_016868010.1:p.Asn220Ser, NP_071924.1:p.Asn220Ser

Select item 14765778913.

rs1476577891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:71388346 (GRCh38)
7:70853332 (GRCh37)
Canonical SPDI:: NC_000007.14:71388345:C:T
Gene:: GALNT17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.71388346C>T, NC_000007.13:g.70853332C>T, XM_011516467.4:c.534C>T, XM_011516467.3:c.534C>T, XM_011516467.2:c.534C>T, XM_011516467.1:c.534C>T, XM_011516469.4:c.534C>T, XM_011516469.3:c.534C>T, XM_011516469.2:c.534C>T, XM_011516469.1:c.534C>T, XM_017012521.3:c.534C>T, XM_017012521.2:c.534C>T, XM_017012521.1:c.534C>T, NM_022479.3:c.534C>T, NM_022479.2:c.534C>T

Select item 14729027954.

rs1472902795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:71578576 (GRCh38)
7:71043561 (GRCh37)
Canonical SPDI:: NC_000007.14:71578575:A:G
Gene:: GALNT17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.71578576A>G, NC_000007.13:g.71043561A>G, XM_017012521.3:c.1131A>G, XM_017012521.2:c.1131A>G, XM_017012521.1:c.1131A>G

Select item 14692357725.

rs1469235772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:71133005 (GRCh38)
7:70597991 (GRCh37)
Canonical SPDI:: NC_000007.14:71133004:C:T
Gene:: GALNT17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.71133005C>T, NC_000007.13:g.70597991C>T, XM_011516467.4:c.203C>T, XM_011516467.3:c.203C>T, XM_011516467.2:c.203C>T, XM_011516467.1:c.203C>T, XM_011516469.4:c.203C>T, XM_011516469.3:c.203C>T, XM_011516469.2:c.203C>T, XM_011516469.1:c.203C>T, XM_017012521.3:c.203C>T, XM_017012521.2:c.203C>T, XM_017012521.1:c.203C>T, NM_022479.3:c.203C>T, NM_022479.2:c.203C>T, XP_011514769.1:p.Ser68Leu, XP_011514771.1:p.Ser68Leu, XP_016868010.1:p.Ser68Leu, NP_071924.1:p.Ser68Leu

Select item 14671475616.

rs1467147561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:71388355 (GRCh38)
7:70853341 (GRCh37)
Canonical SPDI:: NC_000007.14:71388354:A:G
Gene:: GALNT17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.71388355A>G, NC_000007.13:g.70853341A>G, XM_011516467.4:c.543A>G, XM_011516467.3:c.543A>G, XM_011516467.2:c.543A>G, XM_011516467.1:c.543A>G, XM_011516469.4:c.543A>G, XM_011516469.3:c.543A>G, XM_011516469.2:c.543A>G, XM_011516469.1:c.543A>G, XM_017012521.3:c.543A>G, XM_017012521.2:c.543A>G, XM_017012521.1:c.543A>G, NM_022479.3:c.543A>G, NM_022479.2:c.543A>G

Select item 14666737977.

rs1466673797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71133020 (GRCh38)
7:70598006 (GRCh37)
Canonical SPDI:: NC_000007.14:71133019:T:C
Gene:: GALNT17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.71133020T>C, NC_000007.13:g.70598006T>C, XM_011516467.4:c.218T>C, XM_011516467.3:c.218T>C, XM_011516467.2:c.218T>C, XM_011516467.1:c.218T>C, XM_011516469.4:c.218T>C, XM_011516469.3:c.218T>C, XM_011516469.2:c.218T>C, XM_011516469.1:c.218T>C, XM_017012521.3:c.218T>C, XM_017012521.2:c.218T>C, XM_017012521.1:c.218T>C, NM_022479.3:c.218T>C, NM_022479.2:c.218T>C, XP_011514769.1:p.Ile73Thr, XP_011514771.1:p.Ile73Thr, XP_016868010.1:p.Ile73Thr, NP_071924.1:p.Ile73Thr

Select item 14666078718.

rs1466607871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:71416059 (GRCh38)
7:70881045 (GRCh37)
Canonical SPDI:: NC_000007.14:71416058:G:C
Gene:: GALNT17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.71416059G>C, NC_000007.13:g.70881045G>C, XM_011516467.4:c.760G>C, XM_011516467.3:c.760G>C, XM_011516467.2:c.760G>C, XM_011516467.1:c.760G>C, XM_011516469.4:c.760G>C, XM_011516469.3:c.760G>C, XM_011516469.2:c.760G>C, XM_011516469.1:c.760G>C, XM_017012521.3:c.760G>C, XM_017012521.2:c.760G>C, XM_017012521.1:c.760G>C, NM_022479.3:c.760G>C, NM_022479.2:c.760G>C, XP_011514769.1:p.Gly254Arg, XP_011514771.1:p.Gly254Arg, XP_016868010.1:p.Gly254Arg, NP_071924.1:p.Gly254Arg

Select item 14658535619.

rs1465853561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:71132956 (GRCh38)
7:70597942 (GRCh37)
Canonical SPDI:: NC_000007.14:71132955:A:C
Gene:: GALNT17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.71132956A>C, NC_000007.13:g.70597942A>C, XM_011516467.4:c.154A>C, XM_011516467.3:c.154A>C, XM_011516467.2:c.154A>C, XM_011516467.1:c.154A>C, XM_011516469.4:c.154A>C, XM_011516469.3:c.154A>C, XM_011516469.2:c.154A>C, XM_011516469.1:c.154A>C, XM_017012521.3:c.154A>C, XM_017012521.2:c.154A>C, XM_017012521.1:c.154A>C, NM_022479.3:c.154A>C, NM_022479.2:c.154A>C, XP_011514769.1:p.Ser52Arg, XP_011514771.1:p.Ser52Arg, XP_016868010.1:p.Ser52Arg, NP_071924.1:p.Ser52Arg

Select item 146081122110.

rs1460811221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71421048 (GRCh38)
7:70886034 (GRCh37)
Canonical SPDI:: NC_000007.14:71421047:T:C
Gene:: GALNT17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.71421048T>C, NC_000007.13:g.70886034T>C, XM_011516467.4:c.905T>C, XM_011516467.3:c.905T>C, XM_011516467.2:c.905T>C, XM_011516467.1:c.905T>C, XM_011516469.4:c.905T>C, XM_011516469.3:c.905T>C, XM_011516469.2:c.905T>C, XM_011516469.1:c.905T>C, XM_017012521.3:c.905T>C, XM_017012521.2:c.905T>C, XM_017012521.1:c.905T>C, NM_022479.3:c.905T>C, NM_022479.2:c.905T>C, XP_011514769.1:p.Met302Thr, XP_011514771.1:p.Met302Thr, XP_016868010.1:p.Met302Thr, NP_071924.1:p.Met302Thr

Select item 146006889511.

rs1460068895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:71132950 (GRCh38)
7:70597936 (GRCh37)
Canonical SPDI:: NC_000007.14:71132949:A:T
Gene:: GALNT17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.71132950A>T, NC_000007.13:g.70597936A>T, XM_011516467.4:c.148A>T, XM_011516467.3:c.148A>T, XM_011516467.2:c.148A>T, XM_011516467.1:c.148A>T, XM_011516469.4:c.148A>T, XM_011516469.3:c.148A>T, XM_011516469.2:c.148A>T, XM_011516469.1:c.148A>T, XM_017012521.3:c.148A>T, XM_017012521.2:c.148A>T, XM_017012521.1:c.148A>T, NM_022479.3:c.148A>T, NM_022479.2:c.148A>T, XP_011514769.1:p.Asn50Tyr, XP_011514771.1:p.Asn50Tyr, XP_016868010.1:p.Asn50Tyr, NP_071924.1:p.Asn50Tyr

Select item 145756300112.

rs1457563001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71578656 (GRCh38)
7:71043641 (GRCh37)
Canonical SPDI:: NC_000007.14:71578655:T:C
Gene:: GALNT17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.71578656T>C, NC_000007.13:g.71043641T>C, XM_017012521.3:c.1211T>C, XM_017012521.2:c.1211T>C, XM_017012521.1:c.1211T>C, XP_016868010.1:p.Met404Thr