SNP Links for Protein (Select 21264616) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:720176 (GRCh38)
11:720176 (GRCh37)
Canonical SPDI:: NC_000011.10:720175:C:T
Gene:: EPS8L2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.720176C>T, NC_000011.9:g.720176C>T, NG_051601.1:g.19960C>T, NM_022772.4:c.280C>T, NM_022772.3:c.280C>T, XM_017018132.2:c.280C>T, XM_017018132.1:c.280C>T, XM_047427411.1:c.280C>T

Select item 147659882016.

rs1476598820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:720655 (GRCh38)
11:720655 (GRCh37)
Canonical SPDI:: NC_000011.10:720654:A:G
Gene:: EPS8L2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.720655A>G, NC_000011.9:g.720655A>G, NG_051601.1:g.20439A>G, NM_022772.4:c.386A>G, NM_022772.3:c.386A>G, XM_017018132.2:c.386A>G, XM_017018132.1:c.386A>G, XM_047427411.1:c.386A>G, XM_047427412.1:c.-148A>G, NP_073609.2:p.Gln129Arg, XP_016873621.1:p.Gln129Arg, XP_047283367.1:p.Gln129Arg

Select item 147513839617.

rs1475138396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:721188 (GRCh38)
11:721188 (GRCh37)
Canonical SPDI:: NC_000011.10:721187:G:C
Gene:: EPS8L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.721188G>C, NC_000011.9:g.721188G>C, NG_051601.1:g.20972G>C, NM_022772.4:c.682G>C, NM_022772.3:c.682G>C, XM_017018132.2:c.682G>C, XM_017018132.1:c.682G>C, XM_047427411.1:c.682G>C, XM_047427412.1:c.145G>C, NP_073609.2:p.Val228Leu, XP_016873621.1:p.Val228Leu, XP_047283367.1:p.Val228Leu, XP_047283368.1:p.Val49Leu

Select item 147407236918.

rs1474072369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:722412 (GRCh38)
11:722412 (GRCh37)
Canonical SPDI:: NC_000011.10:722411:C:T
Gene:: EPS8L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.722412C>T, NC_000011.9:g.722412C>T, NG_051601.1:g.22196C>T, NM_022772.4:c.1071C>T, NM_022772.3:c.1071C>T, XM_017018132.2:c.1071C>T, XM_017018132.1:c.1071C>T, XM_047427411.1:c.1071C>T, XM_047427412.1:c.534C>T

Select item 147271051519.

rs1472710515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:721289 (GRCh38)
11:721289 (GRCh37)
Canonical SPDI:: NC_000011.10:721288:C:T
Gene:: EPS8L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.721289C>T, NC_000011.9:g.721289C>T, NG_051601.1:g.21073C>T, NM_022772.4:c.705C>T, NM_022772.3:c.705C>T, XM_017018132.2:c.705C>T, XM_017018132.1:c.705C>T, XM_047427411.1:c.705C>T, XM_047427412.1:c.168C>T

Select item 147105139620.

rs1471051396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:722737 (GRCh38)
11:722737 (GRCh37)
Canonical SPDI:: NC_000011.10:722736:C:T
Gene:: EPS8L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.722737C>T, NC_000011.9:g.722737C>T, NG_051601.1:g.22521C>T, NM_022772.4:c.1273C>T, NM_022772.3:c.1273C>T, XM_017018132.2:c.1273C>T, XM_017018132.1:c.1273C>T, XM_047427411.1:c.1273C>T, XM_047427412.1:c.736C>T, NP_073609.2:p.Pro425Ser, XP_016873621.1:p.Pro425Ser, XP_047283367.1:p.Pro425Ser, XP_047283368.1:p.Pro246Ser

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