SNP Links for Protein (Select 578799979) - SNP

Select item 14900083671.

rs1490008367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27345475 (GRCh38)
1:27671966 (GRCh37)
Canonical SPDI:: NC_000001.11:27345474:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000024/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27345475C>T, NC_000001.10:g.27671966C>T, XM_005246022.4:c.237C>T, XM_005246022.3:c.237C>T, XM_005246022.2:c.237C>T, XM_005246022.1:c.237C>T, NM_032872.3:c.141C>T, NM_032872.2:c.141C>T, XM_006710990.2:c.237C>T, XM_006710990.1:c.237C>T, NM_001193308.2:c.141C>T, NM_001193308.1:c.141C>T, XM_047432563.1:c.237C>T

Select item 14893979892.

rs1489397989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27349461 (GRCh38)
1:27675952 (GRCh37)
Canonical SPDI:: NC_000001.11:27349460:C:T
Gene:: SYTL1 (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)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.27349461C>T, NC_000001.10:g.27675952C>T, XM_005246022.4:c.692C>T, XM_005246022.3:c.692C>T, XM_005246022.2:c.692C>T, XM_005246022.1:c.692C>T, NM_032872.3:c.560C>T, NM_032872.2:c.560C>T, XM_006710990.2:c.656C>T, XM_006710990.1:c.656C>T, NM_001193308.2:c.596C>T, NM_001193308.1:c.596C>T, XM_047432563.1:c.692C>T, XM_047432574.1:c.136C>T, XM_047432582.1:c.136C>T, XP_005246079.1:p.Ser231Leu, NP_116261.1:p.Ser187Leu, XP_006711053.1:p.Ser219Leu, NP_001180237.1:p.Ser199Leu, XP_047288519.1:p.Ser231Leu, XP_047288530.1:p.Arg46Trp, XP_047288538.1:p.Arg46Trp

Select item 14892605103.

rs1489260510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27347567 (GRCh38)
1:27674058 (GRCh37)
Canonical SPDI:: NC_000001.11:27347566:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27347567G>A, NC_000001.10:g.27674058G>A, XM_005246022.4:c.434G>A, XM_005246022.3:c.434G>A, XM_005246022.2:c.434G>A, XM_005246022.1:c.434G>A, NM_032872.3:c.338G>A, NM_032872.2:c.338G>A, XM_006710990.2:c.434G>A, XM_006710990.1:c.434G>A, NM_001193308.2:c.338G>A, NM_001193308.1:c.338G>A, XM_047432563.1:c.434G>A, XP_005246079.1:p.Arg145Lys, NP_116261.1:p.Arg113Lys, XP_006711053.1:p.Arg145Lys, NP_001180237.1:p.Arg113Lys, XP_047288519.1:p.Arg145Lys

Select item 14878528074.

rs1487852807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27345464 (GRCh38)
1:27671955 (GRCh37)
Canonical SPDI:: NC_000001.11:27345463:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27345464G>A, NC_000001.10:g.27671955G>A, XM_005246022.4:c.226G>A, XM_005246022.3:c.226G>A, XM_005246022.2:c.226G>A, XM_005246022.1:c.226G>A, NM_032872.3:c.130G>A, NM_032872.2:c.130G>A, XM_006710990.2:c.226G>A, XM_006710990.1:c.226G>A, NM_001193308.2:c.130G>A, NM_001193308.1:c.130G>A, XM_047432563.1:c.226G>A, XP_005246079.1:p.Ala76Thr, NP_116261.1:p.Ala44Thr, XP_006711053.1:p.Ala76Thr, NP_001180237.1:p.Ala44Thr, XP_047288519.1:p.Ala76Thr

Select item 14873229265.

rs1487322926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:27349763 (GRCh38)
1:27676254 (GRCh37)
Canonical SPDI:: NC_000001.11:27349762:A:C
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.27349763A>C, NC_000001.10:g.27676254A>C, XM_005246022.4:c.841A>C, XM_005246022.3:c.841A>C, XM_005246022.2:c.841A>C, XM_005246022.1:c.841A>C, NM_032872.3:c.709A>C, NM_032872.2:c.709A>C, XM_006710990.2:c.805A>C, XM_006710990.1:c.805A>C, NM_001193308.2:c.745A>C, NM_001193308.1:c.745A>C, XM_047432563.1:c.841A>C, XM_047432574.1:c.285A>C, XP_005246079.1:p.Thr281Pro, NP_116261.1:p.Thr237Pro, XP_006711053.1:p.Thr269Pro, NP_001180237.1:p.Thr249Pro, XP_047288519.1:p.Thr281Pro

Select item 14862573526.

rs1486257352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27349659 (GRCh38)
1:27676150 (GRCh37)
Canonical SPDI:: NC_000001.11:27349658:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.27349659C>T, NC_000001.10:g.27676150C>T, XM_005246022.4:c.737C>T, XM_005246022.3:c.737C>T, XM_005246022.2:c.737C>T, XM_005246022.1:c.737C>T, NM_032872.3:c.605C>T, NM_032872.2:c.605C>T, XM_006710990.2:c.701C>T, XM_006710990.1:c.701C>T, NM_001193308.2:c.641C>T, NM_001193308.1:c.641C>T, XM_047432563.1:c.737C>T, XM_047432574.1:c.181C>T, XP_005246079.1:p.Ala246Val, NP_116261.1:p.Ala202Val, XP_006711053.1:p.Ala234Val, NP_001180237.1:p.Ala214Val, XP_047288519.1:p.Ala246Val, XP_047288530.1:p.Pro61Ser

Select item 14855406767.

rs1485540676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27347849 (GRCh38)
1:27674340 (GRCh37)
Canonical SPDI:: NC_000001.11:27347848:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.27347849G>A, NC_000001.10:g.27674340G>A, XM_005246022.4:c.478G>A, XM_005246022.3:c.478G>A, XM_005246022.2:c.478G>A, XM_005246022.1:c.478G>A, NM_032872.3:c.382G>A, NM_032872.2:c.382G>A, XM_006710990.2:c.478G>A, XM_006710990.1:c.478G>A, NM_001193308.2:c.382G>A, NM_001193308.1:c.382G>A, XM_047432563.1:c.478G>A, XM_047432574.1:c.-43G>A, XM_047432582.1:c.-43G>A, XP_005246079.1:p.Val160Met, NP_116261.1:p.Val128Met, XP_006711053.1:p.Val160Met, NP_001180237.1:p.Val128Met, XP_047288519.1:p.Val160Met

Select item 14844625348.

rs1484462534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27351540 (GRCh38)
1:27678031 (GRCh37)
Canonical SPDI:: NC_000001.11:27351539:A:G
Gene:: SYTL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000013/2 (GnomAD_exomes)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.27351540A>G, NC_000001.10:g.27678031A>G, XM_005246022.4:c.1424A>G, XM_005246022.3:c.1424A>G, XM_005246022.2:c.1424A>G, XM_005246022.1:c.1424A>G, NM_032872.3:c.1292A>G, NM_032872.2:c.1292A>G, XM_006710990.2:c.1388A>G, XM_006710990.1:c.1388A>G, NM_001193308.2:c.1328A>G, NM_001193308.1:c.1328A>G, XM_047432563.1:c.*43A>G, XM_047432574.1:c.707A>G, XM_047432582.1:c.593A>G, XP_005246079.1:p.Asp475Gly, NP_116261.1:p.Asp431Gly, XP_006711053.1:p.Asp463Gly, NP_001180237.1:p.Asp443Gly, XP_047288530.1:p.Asp236Gly, XP_047288538.1:p.Asp198Gly

Select item 14838166579.

rs1483816657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27353339 (GRCh38)
1:27679830 (GRCh37)
Canonical SPDI:: NC_000001.11:27353338:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000001.11:g.27353339G>A, NC_000001.10:g.27679830G>A, NG_051309.1:g.19699C>T, XM_005246022.4:c.1496G>A, XM_005246022.3:c.1496G>A, XM_005246022.2:c.1496G>A, XM_005246022.1:c.1496G>A, NM_032872.3:c.1364G>A, NM_032872.2:c.1364G>A, XM_006710990.2:c.1460G>A, XM_006710990.1:c.1460G>A, NM_001193308.2:c.1400G>A, NM_001193308.1:c.1400G>A, XM_047432574.1:c.779G>A, XM_047432582.1:c.665G>A, XP_005246079.1:p.Arg499His, NP_116261.1:p.Arg455His, XP_006711053.1:p.Arg487His, NP_001180237.1:p.Arg467His, XP_047288530.1:p.Arg260His, XP_047288538.1:p.Arg222His

Select item 147970414010.

rs1479704140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27345387 (GRCh38)
1:27671878 (GRCh37)
Canonical SPDI:: NC_000001.11:27345386:T:C
Gene:: SYTL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.27345387T>C, NC_000001.10:g.27671878T>C, XM_005246022.4:c.149T>C, XM_005246022.3:c.149T>C, XM_005246022.2:c.149T>C, XM_005246022.1:c.149T>C, NM_032872.3:c.53T>C, NM_032872.2:c.53T>C, XM_006710990.2:c.149T>C, XM_006710990.1:c.149T>C, NM_001193308.2:c.53T>C, NM_001193308.1:c.53T>C, XM_047432563.1:c.149T>C, XP_005246079.1:p.Leu50Pro, NP_116261.1:p.Leu18Pro, XP_006711053.1:p.Leu50Pro, NP_001180237.1:p.Leu18Pro, XP_047288519.1:p.Leu50Pro

Select item 147914938911.

rs1479149389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27350483 (GRCh38)
1:27676974 (GRCh37)
Canonical SPDI:: NC_000001.11:27350482:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27350483C>T, NC_000001.10:g.27676974C>T, XM_005246022.4:c.1099C>T, XM_005246022.3:c.1099C>T, XM_005246022.2:c.1099C>T, XM_005246022.1:c.1099C>T, NM_032872.3:c.967C>T, NM_032872.2:c.967C>T, XM_006710990.2:c.1063C>T, XM_006710990.1:c.1063C>T, NM_001193308.2:c.1003C>T, NM_001193308.1:c.1003C>T, XM_047432563.1:c.1099C>T, XM_047432574.1:c.382C>T, XM_047432582.1:c.268C>T, XP_005246079.1:p.Arg367Trp, NP_116261.1:p.Arg323Trp, XP_006711053.1:p.Arg355Trp, NP_001180237.1:p.Arg335Trp, XP_047288519.1:p.Arg367Trp, XP_047288530.1:p.Arg128Trp, XP_047288538.1:p.Arg90Trp

Select item 147830513412.

rs1478305134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27349121 (GRCh38)
1:27675612 (GRCh37)
Canonical SPDI:: NC_000001.11:27349120:A:G
Gene:: SYTL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27349121A>G, NC_000001.10:g.27675612A>G, XM_005246022.4:c.597A>G, XM_005246022.3:c.597A>G, XM_005246022.2:c.597A>G, XM_005246022.1:c.597A>G, NM_032872.3:c.465A>G, NM_032872.2:c.465A>G, XM_006710990.2:c.561A>G, XM_006710990.1:c.561A>G, NM_001193308.2:c.501A>G, NM_001193308.1:c.501A>G, XM_047432563.1:c.597A>G, XM_047432574.1:c.41A>G, XM_047432582.1:c.41A>G, XP_047288530.1:p.Gln14Arg, XP_047288538.1:p.Gln14Arg

Select item 147779445113.

rs1477794451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:27349456 (GRCh38)
1:27675947 (GRCh37)
Canonical SPDI:: NC_000001.11:27349455:C:G
Gene:: SYTL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27349456C>G, NC_000001.10:g.27675947C>G, XM_005246022.4:c.687C>G, XM_005246022.3:c.687C>G, XM_005246022.2:c.687C>G, XM_005246022.1:c.687C>G, NM_032872.3:c.555C>G, NM_032872.2:c.555C>G, XM_006710990.2:c.651C>G, XM_006710990.1:c.651C>G, NM_001193308.2:c.591C>G, NM_001193308.1:c.591C>G, XM_047432563.1:c.687C>G, XM_047432574.1:c.131C>G, XM_047432582.1:c.131C>G, XP_047288530.1:p.Pro44Arg, XP_047288538.1:p.Pro44Arg

Select item 147721954214.

rs1477219542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:27347865 (GRCh38)
1:27674356 (GRCh37)
Canonical SPDI:: NC_000001.11:27347864:A:C,NC_000001.11:27347864:A:G
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27347865A>C, NC_000001.11:g.27347865A>G, NC_000001.10:g.27674356A>C, NC_000001.10:g.27674356A>G, XM_005246022.4:c.494A>C, XM_005246022.4:c.494A>G, XM_005246022.3:c.494A>C, XM_005246022.3:c.494A>G, XM_005246022.2:c.494A>C, XM_005246022.2:c.494A>G, XM_005246022.1:c.494A>C, XM_005246022.1:c.494A>G, NM_032872.3:c.398A>C, NM_032872.3:c.398A>G, NM_032872.2:c.398A>C, NM_032872.2:c.398A>G, XM_006710990.2:c.494A>C, XM_006710990.2:c.494A>G, XM_006710990.1:c.494A>C, XM_006710990.1:c.494A>G, NM_001193308.2:c.398A>C, NM_001193308.2:c.398A>G, NM_001193308.1:c.398A>C, NM_001193308.1:c.398A>G, XM_047432563.1:c.494A>C, XM_047432563.1:c.494A>G, XM_047432574.1:c.-27A>C, XM_047432574.1:c.-27A>G, XM_047432582.1:c.-27A>C, XM_047432582.1:c.-27A>G, XP_005246079.1:p.Glu165Ala, XP_005246079.1:p.Glu165Gly, NP_116261.1:p.Glu133Ala, NP_116261.1:p.Glu133Gly, XP_006711053.1:p.Glu165Ala, XP_006711053.1:p.Glu165Gly, NP_001180237.1:p.Glu133Ala, NP_001180237.1:p.Glu133Gly, XP_047288519.1:p.Glu165Ala, XP_047288519.1:p.Glu165Gly

Select item 147346491315.

rs1473464913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:27353311 (GRCh38)
1:27679802 (GRCh37)
Canonical SPDI:: NC_000001.11:27353310:A:C
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27353311A>C, NC_000001.10:g.27679802A>C, NG_051309.1:g.19727T>G, XM_005246022.4:c.1468A>C, XM_005246022.3:c.1468A>C, XM_005246022.2:c.1468A>C, XM_005246022.1:c.1468A>C, NM_032872.3:c.1336A>C, NM_032872.2:c.1336A>C, XM_006710990.2:c.1432A>C, XM_006710990.1:c.1432A>C, NM_001193308.2:c.1372A>C, NM_001193308.1:c.1372A>C, XM_047432574.1:c.751A>C, XM_047432582.1:c.637A>C, XP_005246079.1:p.Ser490Arg, NP_116261.1:p.Ser446Arg, XP_006711053.1:p.Ser478Arg, NP_001180237.1:p.Ser458Arg, XP_047288530.1:p.Ser251Arg, XP_047288538.1:p.Ser213Arg

Select item 147128936416.

rs1471289364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:27353305 (GRCh38)
1:27679796 (GRCh37)
Canonical SPDI:: NC_000001.11:27353304:C:A,NC_000001.11:27353304:C:G,NC_000001.11:27353304:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27353305C>A, NC_000001.11:g.27353305C>G, NC_000001.11:g.27353305C>T, NC_000001.10:g.27679796C>A, NC_000001.10:g.27679796C>G, NC_000001.10:g.27679796C>T, NG_051309.1:g.19733G>T, NG_051309.1:g.19733G>C, NG_051309.1:g.19733G>A, XM_005246022.4:c.1462C>A, XM_005246022.4:c.1462C>G, XM_005246022.4:c.1462C>T, XM_005246022.3:c.1462C>A, XM_005246022.3:c.1462C>G, XM_005246022.3:c.1462C>T, XM_005246022.2:c.1462C>A, XM_005246022.2:c.1462C>G, XM_005246022.2:c.1462C>T, XM_005246022.1:c.1462C>A, XM_005246022.1:c.1462C>G, XM_005246022.1:c.1462C>T, NM_032872.3:c.1330C>A, NM_032872.3:c.1330C>G, NM_032872.3:c.1330C>T, NM_032872.2:c.1330C>A, NM_032872.2:c.1330C>G, NM_032872.2:c.1330C>T, XM_006710990.2:c.1426C>A, XM_006710990.2:c.1426C>G, XM_006710990.2:c.1426C>T, XM_006710990.1:c.1426C>A, XM_006710990.1:c.1426C>G, XM_006710990.1:c.1426C>T, NM_001193308.2:c.1366C>A, NM_001193308.2:c.1366C>G, NM_001193308.2:c.1366C>T, NM_001193308.1:c.1366C>A, NM_001193308.1:c.1366C>G, NM_001193308.1:c.1366C>T, XM_047432574.1:c.745C>A, XM_047432574.1:c.745C>G, XM_047432574.1:c.745C>T, XM_047432582.1:c.631C>A, XM_047432582.1:c.631C>G, XM_047432582.1:c.631C>T, XP_005246079.1:p.Gln488Lys, XP_005246079.1:p.Gln488Glu, XP_005246079.1:p.Gln488Ter, NP_116261.1:p.Gln444Lys, NP_116261.1:p.Gln444Glu, NP_116261.1:p.Gln444Ter, XP_006711053.1:p.Gln476Lys, XP_006711053.1:p.Gln476Glu, XP_006711053.1:p.Gln476Ter, NP_001180237.1:p.Gln456Lys, NP_001180237.1:p.Gln456Glu, NP_001180237.1:p.Gln456Ter, XP_047288530.1:p.Gln249Lys, XP_047288530.1:p.Gln249Glu, XP_047288530.1:p.Gln249Ter, XP_047288538.1:p.Gln211Lys, XP_047288538.1:p.Gln211Glu, XP_047288538.1:p.Gln211Ter

Select item 147088053617.

rs1470880536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27350082 (GRCh38)
1:27676573 (GRCh37)
Canonical SPDI:: NC_000001.11:27350081:C:T
Gene:: SYTL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.27350082C>T, NC_000001.10:g.27676573C>T, XM_005246022.4:c.954C>T, XM_005246022.3:c.954C>T, XM_005246022.2:c.954C>T, XM_005246022.1:c.954C>T, NM_032872.3:c.822C>T, NM_032872.2:c.822C>T, XM_006710990.2:c.918C>T, XM_006710990.1:c.918C>T, NM_001193308.2:c.858C>T, NM_001193308.1:c.858C>T, XM_047432563.1:c.954C>T

Select item 146903736318.

rs1469037363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:27350021 (GRCh38)
1:27676512 (GRCh37)
Canonical SPDI:: NC_000001.11:27350020:T:G
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27350021T>G, NC_000001.10:g.27676512T>G, XM_005246022.4:c.893T>G, XM_005246022.3:c.893T>G, XM_005246022.2:c.893T>G, XM_005246022.1:c.893T>G, NM_032872.3:c.761T>G, NM_032872.2:c.761T>G, XM_006710990.2:c.857T>G, XM_006710990.1:c.857T>G, NM_001193308.2:c.797T>G, NM_001193308.1:c.797T>G, XM_047432563.1:c.893T>G, XP_005246079.1:p.Val298Gly, NP_116261.1:p.Val254Gly, XP_006711053.1:p.Val286Gly, NP_001180237.1:p.Val266Gly, XP_047288519.1:p.Val298Gly

Select item 146816749119.

rs1468167491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:27350065 (GRCh38)
1:27676556 (GRCh37)
Canonical SPDI:: NC_000001.11:27350064:G:A,NC_000001.11:27350064:G:T
Gene:: SYTL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000001.11:g.27350065G>A, NC_000001.11:g.27350065G>T, NC_000001.10:g.27676556G>A, NC_000001.10:g.27676556G>T, XM_005246022.4:c.937G>A, XM_005246022.4:c.937G>T, XM_005246022.3:c.937G>A, XM_005246022.3:c.937G>T, XM_005246022.2:c.937G>A, XM_005246022.2:c.937G>T, XM_005246022.1:c.937G>A, XM_005246022.1:c.937G>T, NM_032872.3:c.805G>A, NM_032872.3:c.805G>T, NM_032872.2:c.805G>A, NM_032872.2:c.805G>T, XM_006710990.2:c.901G>A, XM_006710990.2:c.901G>T, XM_006710990.1:c.901G>A, XM_006710990.1:c.901G>T, NM_001193308.2:c.841G>A, NM_001193308.2:c.841G>T, NM_001193308.1:c.841G>A, NM_001193308.1:c.841G>T, XM_047432563.1:c.937G>A, XM_047432563.1:c.937G>T, XP_005246079.1:p.Ala313Thr, XP_005246079.1:p.Ala313Ser, NP_116261.1:p.Ala269Thr, NP_116261.1:p.Ala269Ser, XP_006711053.1:p.Ala301Thr, XP_006711053.1:p.Ala301Ser, NP_001180237.1:p.Ala281Thr, NP_001180237.1:p.Ala281Ser, XP_047288519.1:p.Ala313Thr, XP_047288519.1:p.Ala313Ser

Select item 146712991020.

rs1467129910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27351305 (GRCh38)
1:27677796 (GRCh37)
Canonical SPDI:: NC_000001.11:27351304:G:A
Gene:: SYTL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.27351305G>A, NC_000001.10:g.27677796G>A, XM_005246022.4:c.1308G>A, XM_005246022.3:c.1308G>A, XM_005246022.2:c.1308G>A, XM_005246022.1:c.1308G>A, NM_032872.3:c.1176G>A, NM_032872.2:c.1176G>A, XM_006710990.2:c.1272G>A, XM_006710990.1:c.1272G>A, NM_001193308.2:c.1212G>A, NM_001193308.1:c.1212G>A, XM_047432574.1:c.591G>A, XM_047432582.1:c.477G>A

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Result Filters

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Items: 1 to 20 of 671

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