SNP Links for Protein (Select 217272892) - SNP

Links from Protein

Items: 1 to 20 of 719

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Select item 14909479131.

rs1490947913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:44879612 (GRCh38)
17:42956980 (GRCh37)
Canonical SPDI:: NC_000017.11:44879611:T:G
Gene:: EFTUD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44879612T>G, NC_000017.10:g.42956980T>G, NG_032674.1:g.25014A>C, NM_004247.4:c.646A>C, NM_004247.3:c.646A>C, NM_001258353.2:c.646A>C, NM_001258353.1:c.646A>C, NM_001258354.2:c.616A>C, NM_001258354.1:c.616A>C, NM_001142605.2:c.541A>C, NM_001142605.1:c.541A>C, XM_047437084.1:c.646A>C, NP_004238.3:p.Thr216Pro, NP_001245282.1:p.Thr216Pro, NP_001245283.1:p.Thr206Pro, NP_001136077.1:p.Thr181Pro, XP_047293040.1:p.Thr216Pro

Select item 14888515882.

rs1488851588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44851722 (GRCh38)
17:42929090 (GRCh37)
Canonical SPDI:: NC_000017.11:44851721:G:A
Gene:: EFTUD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.44851722G>A, NC_000017.10:g.42929090G>A, NG_032674.1:g.52904C>T, NM_004247.4:c.2811C>T, NM_004247.3:c.2811C>T, NM_001258353.2:c.2811C>T, NM_001258353.1:c.2811C>T, NM_001258354.2:c.2781C>T, NM_001258354.1:c.2781C>T, NM_001142605.2:c.2706C>T, NM_001142605.1:c.2706C>T

Select item 14886462503.

rs1488646250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:44863712 (GRCh38)
17:42941080 (GRCh37)
Canonical SPDI:: NC_000017.11:44863711:G:C
Gene:: EFTUD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44863712G>C, NC_000017.10:g.42941080G>C, NG_032674.1:g.40914C>G, NM_004247.4:c.1356C>G, NM_004247.3:c.1356C>G, NM_001258353.2:c.1356C>G, NM_001258353.1:c.1356C>G, NM_001258354.2:c.1326C>G, NM_001258354.1:c.1326C>G, NM_001142605.2:c.1251C>G, NM_001142605.1:c.1251C>G, XM_047437084.1:c.1356C>G

Select item 14877723874.

rs1487772387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44879600 (GRCh38)
17:42956968 (GRCh37)
Canonical SPDI:: NC_000017.11:44879599:G:A
Gene:: EFTUD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.44879600G>A, NC_000017.10:g.42956968G>A, NG_032674.1:g.25026C>T, NM_004247.4:c.658C>T, NM_004247.3:c.658C>T, NM_001258353.2:c.658C>T, NM_001258353.1:c.658C>T, NM_001258354.2:c.628C>T, NM_001258354.1:c.628C>T, NM_001142605.2:c.553C>T, NM_001142605.1:c.553C>T, XM_047437084.1:c.658C>T, NP_004238.3:p.Arg220Cys, NP_001245282.1:p.Arg220Cys, NP_001245283.1:p.Arg210Cys, NP_001136077.1:p.Arg185Cys, XP_047293040.1:p.Arg220Cys

Select item 14855174885.

rs1485517488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44880603 (GRCh38)
17:42957971 (GRCh37)
Canonical SPDI:: NC_000017.11:44880602:C:T
Gene:: EFTUD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000106/2 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.44880603C>T, NC_000017.10:g.42957971C>T, NG_032674.1:g.24023G>A, NM_004247.4:c.570G>A, NM_004247.3:c.570G>A, NM_001258353.2:c.570G>A, NM_001258353.1:c.570G>A, NM_001258354.2:c.540G>A, NM_001258354.1:c.540G>A, NM_001142605.2:c.465G>A, NM_001142605.1:c.465G>A, XM_047437084.1:c.570G>A

Select item 14846081356.

rs1484608135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44868346 (GRCh38)
17:42945714 (GRCh37)
Canonical SPDI:: NC_000017.11:44868345:G:A
Gene:: EFTUD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44868346G>A, NC_000017.10:g.42945714G>A, NG_032674.1:g.36280C>T, NM_004247.4:c.999C>T, NM_004247.3:c.999C>T, NM_001258353.2:c.999C>T, NM_001258353.1:c.999C>T, NM_001258354.2:c.969C>T, NM_001258354.1:c.969C>T, NM_001142605.2:c.894C>T, NM_001142605.1:c.894C>T, XM_047437084.1:c.999C>T

Select item 14833646807.

rs1483364680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44851341 (GRCh38)
17:42928709 (GRCh37)
Canonical SPDI:: NC_000017.11:44851340:T:C
Gene:: EFTUD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44851341T>C, NC_000017.10:g.42928709T>C, NG_032674.1:g.53285A>G, NM_004247.4:c.2852A>G, NM_004247.3:c.2852A>G, NM_001258353.2:c.2852A>G, NM_001258353.1:c.2852A>G, NM_001258354.2:c.2822A>G, NM_001258354.1:c.2822A>G, NM_001142605.2:c.2747A>G, NM_001142605.1:c.2747A>G, NP_004238.3:p.Lys951Arg, NP_001245282.1:p.Lys951Arg, NP_001245283.1:p.Lys941Arg, NP_001136077.1:p.Lys916Arg

Select item 14830948268.

rs1483094826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:44883152 (GRCh38)
17:42960520 (GRCh37)
Canonical SPDI:: NC_000017.11:44883151:A:C
Gene:: EFTUD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44883152A>C, NC_000017.10:g.42960520A>C, NG_032674.1:g.21474T>G, NM_004247.4:c.433T>G, NM_004247.3:c.433T>G, NM_001258353.2:c.433T>G, NM_001258353.1:c.433T>G, NM_001142605.2:c.328T>G, NM_001142605.1:c.328T>G, XM_047437084.1:c.433T>G, NP_004238.3:p.Phe145Val, NP_001245282.1:p.Phe145Val, NP_001136077.1:p.Phe110Val, XP_047293040.1:p.Phe145Val

Select item 14829637839.

rs1482963783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:44852481 (GRCh38)
17:42929849 (GRCh37)
Canonical SPDI:: NC_000017.11:44852480:A:C
Gene:: EFTUD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44852481A>C, NC_000017.10:g.42929849A>C, NG_032674.1:g.52145T>G, NM_004247.4:c.2643T>G, NM_004247.3:c.2643T>G, NM_001258353.2:c.2643T>G, NM_001258353.1:c.2643T>G, NM_001258354.2:c.2613T>G, NM_001258354.1:c.2613T>G, NM_001142605.2:c.2538T>G, NM_001142605.1:c.2538T>G, XM_047437084.1:c.2548T>G, NP_004238.3:p.Phe881Leu, NP_001245282.1:p.Phe881Leu, NP_001245283.1:p.Phe871Leu, NP_001136077.1:p.Phe846Leu, XP_047293040.1:p.Trp850Gly

Select item 148225437610.

rs1482254376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:44886599 (GRCh38)
17:42963967 (GRCh37)
Canonical SPDI:: NC_000017.11:44886598:G:C
Gene:: EFTUD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44886599G>C, NC_000017.10:g.42963967G>C, NG_032674.1:g.18027C>G, NM_004247.4:c.257C>G, NM_004247.3:c.257C>G, NM_001258353.2:c.257C>G, NM_001258353.1:c.257C>G, NM_001258354.2:c.257C>G, NM_001258354.1:c.257C>G, NM_001142605.2:c.152C>G, NM_001142605.1:c.152C>G, XM_047437084.1:c.257C>G, NP_004238.3:p.Thr86Ser, NP_001245282.1:p.Thr86Ser, NP_001245283.1:p.Thr86Ser, NP_001136077.1:p.Thr51Ser, XP_047293040.1:p.Thr86Ser

Select item 147946953011.

rs1479469530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:44872465 (GRCh38)
17:42949833 (GRCh37)
Canonical SPDI:: NC_000017.11:44872464:C:G
Gene:: EFTUD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44872465C>G, NC_000017.10:g.42949833C>G, NG_032674.1:g.32161G>C, NM_004247.4:c.975G>C, NM_004247.3:c.975G>C, NM_001258353.2:c.975G>C, NM_001258353.1:c.975G>C, NM_001258354.2:c.945G>C, NM_001258354.1:c.945G>C, NM_001142605.2:c.870G>C, NM_001142605.1:c.870G>C, XM_047437084.1:c.975G>C, NP_004238.3:p.Lys325Asn, NP_001245282.1:p.Lys325Asn, NP_001245283.1:p.Lys315Asn, NP_001136077.1:p.Lys290Asn, XP_047293040.1:p.Lys325Asn

Select item 147420397212.

rs1474203972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44879585 (GRCh38)
17:42956953 (GRCh37)
Canonical SPDI:: NC_000017.11:44879584:C:T
Gene:: EFTUD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44879585C>T, NC_000017.10:g.42956953C>T, NG_032674.1:g.25041G>A, NM_004247.4:c.673G>A, NM_004247.3:c.673G>A, NM_001258353.2:c.673G>A, NM_001258353.1:c.673G>A, NM_001258354.2:c.643G>A, NM_001258354.1:c.643G>A, NM_001142605.2:c.568G>A, NM_001142605.1:c.568G>A, XM_047437084.1:c.673G>A, NP_004238.3:p.Val225Met, NP_001245282.1:p.Val225Met, NP_001245283.1:p.Val215Met, NP_001136077.1:p.Val190Met, XP_047293040.1:p.Val225Met

Select item 147369187613.

rs1473691876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:44851725 (GRCh38)
17:42929093 (GRCh37)
Canonical SPDI:: NC_000017.11:44851724:T:G
Gene:: EFTUD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.44851725T>G, NC_000017.10:g.42929093T>G, NG_032674.1:g.52901A>C, NM_004247.4:c.2808A>C, NM_004247.3:c.2808A>C, NM_001258353.2:c.2808A>C, NM_001258353.1:c.2808A>C, NM_001258354.2:c.2778A>C, NM_001258354.1:c.2778A>C, NM_001142605.2:c.2703A>C, NM_001142605.1:c.2703A>C, NP_004238.3:p.Lys936Asn, NP_001245282.1:p.Lys936Asn, NP_001245283.1:p.Lys926Asn, NP_001136077.1:p.Lys901Asn

Select item 146968695214.

rs1469686952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44876089 (GRCh38)
17:42953457 (GRCh37)
Canonical SPDI:: NC_000017.11:44876088:G:A
Gene:: EFTUD2 (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.44876089G>A, NC_000017.10:g.42953457G>A, NG_032674.1:g.28537C>T, NM_004247.4:c.714C>T, NM_004247.3:c.714C>T, NM_001258353.2:c.714C>T, NM_001258353.1:c.714C>T, NM_001258354.2:c.684C>T, NM_001258354.1:c.684C>T, NM_001142605.2:c.609C>T, NM_001142605.1:c.609C>T, XM_047437084.1:c.714C>T

Select item 146864264715.

rs1468642647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44886700 (GRCh38)
17:42964068 (GRCh37)
Canonical SPDI:: NC_000017.11:44886699:G:A
Gene:: EFTUD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44886700G>A, NC_000017.10:g.42964068G>A, NG_032674.1:g.17926C>T, NM_004247.4:c.156C>T, NM_004247.3:c.156C>T, NM_001258353.2:c.156C>T, NM_001258353.1:c.156C>T, NM_001258354.2:c.156C>T, NM_001258354.1:c.156C>T, NM_001142605.2:c.51C>T, NM_001142605.1:c.51C>T, XM_047437084.1:c.156C>T

Select item 146814784816.

rs1468147848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44876094 (GRCh38)
17:42953462 (GRCh37)
Canonical SPDI:: NC_000017.11:44876093:G:A
Gene:: EFTUD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44876094G>A, NC_000017.10:g.42953462G>A, NG_032674.1:g.28532C>T, NM_004247.4:c.709C>T, NM_004247.3:c.709C>T, NM_001258353.2:c.709C>T, NM_001258353.1:c.709C>T, NM_001258354.2:c.679C>T, NM_001258354.1:c.679C>T, NM_001142605.2:c.604C>T, NM_001142605.1:c.604C>T, XM_047437084.1:c.709C>T

Select item 146729124317.

rs1467291243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44872484 (GRCh38)
17:42949852 (GRCh37)
Canonical SPDI:: NC_000017.11:44872483:G:A
Gene:: EFTUD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.44872484G>A, NC_000017.10:g.42949852G>A, NG_032674.1:g.32142C>T, NM_004247.4:c.956C>T, NM_004247.3:c.956C>T, NM_001258353.2:c.956C>T, NM_001258353.1:c.956C>T, NM_001258354.2:c.926C>T, NM_001258354.1:c.926C>T, NM_001142605.2:c.851C>T, NM_001142605.1:c.851C>T, XM_047437084.1:c.956C>T, NP_004238.3:p.Thr319Met, NP_001245282.1:p.Thr319Met, NP_001245283.1:p.Thr309Met, NP_001136077.1:p.Thr284Met, XP_047293040.1:p.Thr319Met

Select item 146164252918.

rs1461642529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44853629 (GRCh38)
17:42930997 (GRCh37)
Canonical SPDI:: NC_000017.11:44853628:C:T
Gene:: EFTUD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44853629C>T, NC_000017.10:g.42930997C>T, NG_032674.1:g.50997G>A, NM_004247.4:c.2354G>A, NM_004247.3:c.2354G>A, NM_001258353.2:c.2354G>A, NM_001258353.1:c.2354G>A, NM_001258354.2:c.2324G>A, NM_001258354.1:c.2324G>A, NM_001142605.2:c.2249G>A, NM_001142605.1:c.2249G>A, XM_047437084.1:c.2354G>A, NP_004238.3:p.Arg785Gln, NP_001245282.1:p.Arg785Gln, NP_001245283.1:p.Arg775Gln, NP_001136077.1:p.Arg750Gln, XP_047293040.1:p.Arg785Gln

Select item 145858825219.

rs1458588252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44862792 (GRCh38)
17:42940160 (GRCh37)
Canonical SPDI:: NC_000017.11:44862791:G:A
Gene:: EFTUD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44862792G>A, NC_000017.10:g.42940160G>A, NG_032674.1:g.41834C>T, NM_004247.4:c.1528C>T, NM_004247.3:c.1528C>T, NM_001258353.2:c.1528C>T, NM_001258353.1:c.1528C>T, NM_001258354.2:c.1498C>T, NM_001258354.1:c.1498C>T, NM_001142605.2:c.1423C>T, NM_001142605.1:c.1423C>T, XM_047437084.1:c.1528C>T

Select item 145858299720.

rs1458582997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44854328 (GRCh38)
17:42931696 (GRCh37)
Canonical SPDI:: NC_000017.11:44854327:T:C
Gene:: EFTUD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44854328T>C, NC_000017.10:g.42931696T>C, NG_032674.1:g.50298A>G, NM_004247.4:c.2288A>G, NM_004247.3:c.2288A>G, NM_001258353.2:c.2288A>G, NM_001258353.1:c.2288A>G, NM_001258354.2:c.2258A>G, NM_001258354.1:c.2258A>G, NM_001142605.2:c.2183A>G, NM_001142605.1:c.2183A>G, XM_047437084.1:c.2288A>G, NP_004238.3:p.Lys763Arg, NP_001245282.1:p.Lys763Arg, NP_001245283.1:p.Lys753Arg, NP_001136077.1:p.Lys728Arg, XP_047293040.1:p.Lys763Arg

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