SNP Links for Protein (Select 966209822) - SNP

Links from Protein

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Select item 14905592361.

rs1490559236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 5:129027207 (GRCh38)
5:128362900 (GRCh37)
Canonical SPDI:: NC_000005.10:129027206:A:C,NC_000005.10:129027206:A:G,NC_000005.10:129027206:A:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129027207A>C, NC_000005.10:g.129027207A>G, NC_000005.10:g.129027207A>T, NC_000005.9:g.128362900A>C, NC_000005.9:g.128362900A>G, NC_000005.9:g.128362900A>T, NM_014031.5:c.1330A>C, NM_014031.5:c.1330A>G, NM_014031.5:c.1330A>T, NM_014031.4:c.1330A>C, NM_014031.4:c.1330A>G, NM_014031.4:c.1330A>T, NM_014031.3:c.1330A>C, NM_014031.3:c.1330A>G, NM_014031.3:c.1330A>T, NM_001017372.3:c.1330A>C, NM_001017372.3:c.1330A>G, NM_001017372.3:c.1330A>T, NM_001017372.2:c.1330A>C, NM_001017372.2:c.1330A>G, NM_001017372.2:c.1330A>T, NM_001017372.1:c.1330A>C, NM_001017372.1:c.1330A>G, NM_001017372.1:c.1330A>T, NM_001317984.2:c.1330A>C, NM_001317984.2:c.1330A>G, NM_001317984.2:c.1330A>T, NM_001317984.1:c.1330A>C, NM_001317984.1:c.1330A>G, NM_001317984.1:c.1330A>T, NP_054750.1:p.Thr444Pro, NP_054750.1:p.Thr444Ala, NP_054750.1:p.Thr444Ser, NP_001017372.1:p.Thr444Pro, NP_001017372.1:p.Thr444Ala, NP_001017372.1:p.Thr444Ser, NP_001304913.1:p.Thr444Pro, NP_001304913.1:p.Thr444Ala, NP_001304913.1:p.Thr444Ser

Select item 14901194952.

rs1490119495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:128988724 (GRCh38)
5:128324417 (GRCh37)
Canonical SPDI:: NC_000005.10:128988723:A:G
Gene:: SLC27A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.128988724A>G, NC_000005.9:g.128324417A>G, NM_014031.5:c.810A>G, NM_014031.4:c.810A>G, NM_014031.3:c.810A>G, NM_001017372.3:c.810A>G, NM_001017372.2:c.810A>G, NM_001017372.1:c.810A>G, NM_001317984.2:c.810A>G, NM_001317984.1:c.810A>G

Select item 14867495453.

rs1486749545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:129028352 (GRCh38)
5:128364045 (GRCh37)
Canonical SPDI:: NC_000005.10:129028351:G:A
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129028352G>A, NC_000005.9:g.128364045G>A, NM_014031.5:c.1462G>A, NM_014031.4:c.1462G>A, NM_014031.3:c.1462G>A, NM_001017372.3:c.1462G>A, NM_001017372.2:c.1462G>A, NM_001017372.1:c.1462G>A, NM_001317984.2:c.1462G>A, NM_001317984.1:c.1462G>A, NP_054750.1:p.Gly488Arg, NP_001017372.1:p.Gly488Arg, NP_001304913.1:p.Gly488Arg

Select item 14866085994.

rs1486608599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:128966355 (GRCh38)
5:128302048 (GRCh37)
Canonical SPDI:: NC_000005.10:128966354:T:C
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.128966355T>C, NC_000005.9:g.128302048T>C, NM_014031.5:c.218T>C, NM_014031.4:c.218T>C, NM_014031.3:c.218T>C, NM_001017372.3:c.218T>C, NM_001017372.2:c.218T>C, NM_001017372.1:c.218T>C, NM_001317984.2:c.218T>C, NM_001317984.1:c.218T>C, NP_054750.1:p.Ile73Thr, NP_001017372.1:p.Ile73Thr, NP_001304913.1:p.Ile73Thr

Select item 14847096915.

rs1484709691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:128985238 (GRCh38)
5:128320931 (GRCh37)
Canonical SPDI:: NC_000005.10:128985237:A:G
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.128985238A>G, NC_000005.9:g.128320931A>G, NM_014031.5:c.587A>G, NM_014031.4:c.587A>G, NM_014031.3:c.587A>G, NM_001017372.3:c.587A>G, NM_001017372.2:c.587A>G, NM_001017372.1:c.587A>G, NM_001317984.2:c.587A>G, NM_001317984.1:c.587A>G, NP_054750.1:p.Lys196Arg, NP_001017372.1:p.Lys196Arg, NP_001304913.1:p.Lys196Arg

Select item 14843550586.

rs1484355058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:128966195 (GRCh38)
5:128301888 (GRCh37)
Canonical SPDI:: NC_000005.10:128966194:C:A,NC_000005.10:128966194:C:G
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000035/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.128966195C>A, NC_000005.10:g.128966195C>G, NC_000005.9:g.128301888C>A, NC_000005.9:g.128301888C>G, NM_014031.5:c.58C>A, NM_014031.5:c.58C>G, NM_014031.4:c.58C>A, NM_014031.4:c.58C>G, NM_014031.3:c.58C>A, NM_014031.3:c.58C>G, NM_001017372.3:c.58C>A, NM_001017372.3:c.58C>G, NM_001017372.2:c.58C>A, NM_001017372.2:c.58C>G, NM_001017372.1:c.58C>A, NM_001017372.1:c.58C>G, NM_001317984.2:c.58C>A, NM_001317984.2:c.58C>G, NM_001317984.1:c.58C>A, NM_001317984.1:c.58C>G, NP_054750.1:p.Gln20Lys, NP_054750.1:p.Gln20Glu, NP_001017372.1:p.Gln20Lys, NP_001017372.1:p.Gln20Glu, NP_001304913.1:p.Gln20Lys, NP_001304913.1:p.Gln20Glu

Select item 14841202377.

rs1484120237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:128966596 (GRCh38)
5:128302289 (GRCh37)
Canonical SPDI:: NC_000005.10:128966595:C:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.128966596C>T, NC_000005.9:g.128302289C>T, NM_014031.5:c.459C>T, NM_014031.4:c.459C>T, NM_014031.3:c.459C>T, NM_001017372.3:c.459C>T, NM_001017372.2:c.459C>T, NM_001017372.1:c.459C>T, NM_001317984.2:c.459C>T, NM_001317984.1:c.459C>T

Select item 14832436578.

rs1483243657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:128966545 (GRCh38)
5:128302238 (GRCh37)
Canonical SPDI:: NC_000005.10:128966544:C:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.128966545C>T, NC_000005.9:g.128302238C>T, NM_014031.5:c.408C>T, NM_014031.4:c.408C>T, NM_014031.3:c.408C>T, NM_001017372.3:c.408C>T, NM_001017372.2:c.408C>T, NM_001017372.1:c.408C>T, NM_001317984.2:c.408C>T, NM_001317984.1:c.408C>T

Select item 14829874539.

rs1482987453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:128988733 (GRCh38)
5:128324426 (GRCh37)
Canonical SPDI:: NC_000005.10:128988732:G:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.128988733G>T, NC_000005.9:g.128324426G>T, NM_014031.5:c.819G>T, NM_014031.4:c.819G>T, NM_014031.3:c.819G>T, NM_001017372.3:c.819G>T, NM_001017372.2:c.819G>T, NM_001017372.1:c.819G>T, NM_001317984.2:c.819G>T, NM_001317984.1:c.819G>T

Select item 148225332710.

rs1482253327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:128966276 (GRCh38)
5:128301969 (GRCh37)
Canonical SPDI:: NC_000005.10:128966275:T:A
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.128966276T>A, NC_000005.9:g.128301969T>A, NM_014031.5:c.139T>A, NM_014031.4:c.139T>A, NM_014031.3:c.139T>A, NM_001017372.3:c.139T>A, NM_001017372.2:c.139T>A, NM_001017372.1:c.139T>A, NM_001317984.2:c.139T>A, NM_001317984.1:c.139T>A, NP_054750.1:p.Tyr47Asn, NP_001017372.1:p.Tyr47Asn, NP_001304913.1:p.Tyr47Asn

Select item 148098868711.

rs1480988687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:128990447 (GRCh38)
5:128326140 (GRCh37)
Canonical SPDI:: NC_000005.10:128990446:C:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.128990447C>T, NC_000005.9:g.128326140C>T, NM_014031.5:c.952C>T, NM_014031.4:c.952C>T, NM_014031.3:c.952C>T, NM_001017372.3:c.952C>T, NM_001017372.2:c.952C>T, NM_001017372.1:c.952C>T, NM_001317984.2:c.952C>T, NM_001317984.1:c.952C>T, NP_054750.1:p.Leu318Phe, NP_001017372.1:p.Leu318Phe, NP_001304913.1:p.Leu318Phe

Select item 147999889612.

rs1479998896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:128988686 (GRCh38)
5:128324379 (GRCh37)
Canonical SPDI:: NC_000005.10:128988685:A:G,NC_000005.10:128988685:A:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.128988686A>G, NC_000005.10:g.128988686A>T, NC_000005.9:g.128324379A>G, NC_000005.9:g.128324379A>T, NM_014031.5:c.772A>G, NM_014031.5:c.772A>T, NM_014031.4:c.772A>G, NM_014031.4:c.772A>T, NM_014031.3:c.772A>G, NM_014031.3:c.772A>T, NM_001017372.3:c.772A>G, NM_001017372.3:c.772A>T, NM_001017372.2:c.772A>G, NM_001017372.2:c.772A>T, NM_001017372.1:c.772A>G, NM_001017372.1:c.772A>T, NM_001317984.2:c.772A>G, NM_001317984.2:c.772A>T, NM_001317984.1:c.772A>G, NM_001317984.1:c.772A>T, NP_054750.1:p.Ile258Val, NP_054750.1:p.Ile258Phe, NP_001017372.1:p.Ile258Val, NP_001017372.1:p.Ile258Phe, NP_001304913.1:p.Ile258Val, NP_001304913.1:p.Ile258Phe

Select item 147981794113.

rs1479817941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:128985241 (GRCh38)
5:128320934 (GRCh37)
Canonical SPDI:: NC_000005.10:128985240:T:C
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.128985241T>C, NC_000005.9:g.128320934T>C, NM_014031.5:c.590T>C, NM_014031.4:c.590T>C, NM_014031.3:c.590T>C, NM_001017372.3:c.590T>C, NM_001017372.2:c.590T>C, NM_001017372.1:c.590T>C, NM_001317984.2:c.590T>C, NM_001317984.1:c.590T>C, NP_054750.1:p.Leu197Pro, NP_001017372.1:p.Leu197Pro, NP_001304913.1:p.Leu197Pro

Select item 147968549714.

rs1479685497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:129015918 (GRCh38)
5:128351611 (GRCh37)
Canonical SPDI:: NC_000005.10:129015917:G:A
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129015918G>A, NC_000005.9:g.128351611G>A, NM_014031.5:c.1003G>A, NM_014031.4:c.1003G>A, NM_014031.3:c.1003G>A, NM_001017372.3:c.1003G>A, NM_001017372.2:c.1003G>A, NM_001017372.1:c.1003G>A, NM_001317984.2:c.1003G>A, NM_001317984.1:c.1003G>A, NP_054750.1:p.Ala335Thr, NP_001017372.1:p.Ala335Thr, NP_001304913.1:p.Ala335Thr

Select item 147757966315.

rs1477579663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:129033235 (GRCh38)
5:128368928 (GRCh37)
Canonical SPDI:: NC_000005.10:129033234:A:G
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129033235A>G, NC_000005.9:g.128368928A>G, NM_014031.5:c.1813A>G, NM_014031.4:c.1813A>G, NM_014031.3:c.1813A>G, NM_001017372.3:c.1813A>G, NM_001017372.2:c.1813A>G, NM_001017372.1:c.1813A>G, NM_001317984.2:c.1813A>G, NM_001317984.1:c.1813A>G, NP_054750.1:p.Thr605Ala, NP_001017372.1:p.Thr605Ala, NP_001304913.1:p.Thr605Ala

Select item 147660190716.

rs1476601907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:129016038 (GRCh38)
5:128351731 (GRCh37)
Canonical SPDI:: NC_000005.10:129016037:G:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.129016038G>T, NC_000005.9:g.128351731G>T, NM_014031.5:c.1123G>T, NM_014031.4:c.1123G>T, NM_014031.3:c.1123G>T, NM_001017372.3:c.1123G>T, NM_001017372.2:c.1123G>T, NM_001017372.1:c.1123G>T, NM_001317984.2:c.1123G>T, NM_001317984.1:c.1123G>T, NP_054750.1:p.Gly375Trp, NP_001017372.1:p.Gly375Trp, NP_001304913.1:p.Gly375Trp

Select item 147304912617.

rs1473049126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:128988634 (GRCh38)
5:128324327 (GRCh37)
Canonical SPDI:: NC_000005.10:128988633:G:C
Gene:: SLC27A6 (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_000005.10:g.128988634G>C, NC_000005.9:g.128324327G>C, NM_014031.5:c.720G>C, NM_014031.4:c.720G>C, NM_014031.3:c.720G>C, NM_001017372.3:c.720G>C, NM_001017372.2:c.720G>C, NM_001017372.1:c.720G>C, NM_001317984.2:c.720G>C, NM_001317984.1:c.720G>C, NP_054750.1:p.Gln240His, NP_001017372.1:p.Gln240His, NP_001304913.1:p.Gln240His

Select item 147215701418.

rs1472157014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:129028391 (GRCh38)
5:128364084 (GRCh37)
Canonical SPDI:: NC_000005.10:129028390:G:C
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.129028391G>C, NC_000005.9:g.128364084G>C, NM_014031.5:c.1501G>C, NM_014031.4:c.1501G>C, NM_014031.3:c.1501G>C, NM_001017372.3:c.1501G>C, NM_001017372.2:c.1501G>C, NM_001017372.1:c.1501G>C, NM_001317984.2:c.1501G>C, NM_001317984.1:c.1501G>C, NP_054750.1:p.Gly501Arg, NP_001017372.1:p.Gly501Arg, NP_001304913.1:p.Gly501Arg

Select item 147190337919.

rs1471903379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:129029626 (GRCh38)
5:128365319 (GRCh37)
Canonical SPDI:: NC_000005.10:129029625:A:G,NC_000005.10:129029625:A:T
Gene:: SLC27A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.129029626A>G, NC_000005.10:g.129029626A>T, NC_000005.9:g.128365319A>G, NC_000005.9:g.128365319A>T, NM_014031.5:c.1602A>G, NM_014031.5:c.1602A>T, NM_014031.4:c.1602A>G, NM_014031.4:c.1602A>T, NM_014031.3:c.1602A>G, NM_014031.3:c.1602A>T, NM_001017372.3:c.1602A>G, NM_001017372.3:c.1602A>T, NM_001017372.2:c.1602A>G, NM_001017372.2:c.1602A>T, NM_001017372.1:c.1602A>G, NM_001017372.1:c.1602A>T, NM_001317984.2:c.1602A>G, NM_001317984.2:c.1602A>T, NM_001317984.1:c.1602A>G, NM_001317984.1:c.1602A>T

Select item 146540846820.

rs1465408468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:128966583 (GRCh38)
5:128302276 (GRCh37)
Canonical SPDI:: NC_000005.10:128966582:G:A
Gene:: SLC27A6 (Varview)
Functional Consequence:: missense_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_000005.10:g.128966583G>A, NC_000005.9:g.128302276G>A, NM_014031.5:c.446G>A, NM_014031.4:c.446G>A, NM_014031.3:c.446G>A, NM_001017372.3:c.446G>A, NM_001017372.2:c.446G>A, NM_001017372.1:c.446G>A, NM_001317984.2:c.446G>A, NM_001317984.1:c.446G>A, NP_054750.1:p.Arg149His, NP_001017372.1:p.Arg149His, NP_001304913.1:p.Arg149His

dbSNP

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