SNP Links for Protein (Select 27894313) - SNP

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Links from Protein

Items: 1 to 20 of 146

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Select item 14906379001.

rs1490637900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113031701 (GRCh38)
2:113789278 (GRCh37)
Canonical SPDI:: NC_000002.12:113031700:T:C
Gene:: IL36B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113031701T>C, NC_000002.11:g.113789278T>C, NM_014438.5:c.9A>G, NM_014438.4:c.9A>G, NM_173178.3:c.9A>G, NM_173178.2:c.9A>G, XM_011510962.1:c.9A>G

Select item 14861699832.

rs1486169983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113027904 (GRCh38)
2:113785481 (GRCh37)
Canonical SPDI:: NC_000002.12:113027903:T:C
Gene:: IL36B (Varview)
Functional Consequence:: terminator_codon_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.113027904T>C, NC_000002.11:g.113785481T>C, NM_173178.3:c.473A>G, NM_173178.2:c.473A>G, XM_011510962.1:c.473A>G

Select item 14816705073.

rs1481670507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113027915 (GRCh38)
2:113785492 (GRCh37)
Canonical SPDI:: NC_000002.12:113027914:A:G
Gene:: IL36B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113027915A>G, NC_000002.11:g.113785492A>G, NM_173178.3:c.462T>C, NM_173178.2:c.462T>C, XM_011510962.1:c.462T>C

Select item 14777702934.

rs1477770293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113031100 (GRCh38)
2:113788677 (GRCh37)
Canonical SPDI:: NC_000002.12:113031099:G:A
Gene:: IL36B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113031100G>A, NC_000002.11:g.113788677G>A, NM_014438.5:c.69C>T, NM_014438.4:c.69C>T, NM_173178.3:c.69C>T, NM_173178.2:c.69C>T, XM_011510962.1:c.69C>T

Select item 14709813695.

rs1470981369 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:113027996 (GRCh38)
2:113785573 (GRCh37)
Canonical SPDI:: NC_000002.12:113027995:T:
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113027996del, NC_000002.11:g.113785573del, NM_173178.3:c.381del, NM_173178.2:c.381del, XM_011510962.1:c.381del, NP_775270.1:p.Ile127fs, XP_011509264.1:p.Ile127fs

Select item 14684763316.

rs1468476331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113028013 (GRCh38)
2:113785590 (GRCh37)
Canonical SPDI:: NC_000002.12:113028012:A:G
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113028013A>G, NC_000002.11:g.113785590A>G, NM_173178.3:c.364T>C, NM_173178.2:c.364T>C, XM_011510962.1:c.364T>C, NP_775270.1:p.Tyr122His, XP_011509264.1:p.Tyr122His

Select item 14442543817.

rs1444254381 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTGGT [Show Flanks]
Chromosome:: 2:113027951 (GRCh38)
2:113785529 (GRCh37)
Canonical SPDI:: NC_000002.12:113027951:TCCTTGGT:TCCTTGGTCCTTGGT
Gene:: IL36B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: TCCTTGG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113027953_113027959dup, NC_000002.11:g.113785530_113785536dup, NM_173178.3:c.419_425dup, NM_173178.2:c.419_425dup, XM_011510962.1:c.419_425dup, NP_775270.1:p.Glu142fs, XP_011509264.1:p.Glu142fs

Select item 14432710988.

rs1443271098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113028069 (GRCh38)
2:113785646 (GRCh37)
Canonical SPDI:: NC_000002.12:113028068:G:A
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113028069G>A, NC_000002.11:g.113785646G>A, NM_173178.3:c.308C>T, NM_173178.2:c.308C>T, XM_011510962.1:c.308C>T, NP_775270.1:p.Pro103Leu, XP_011509264.1:p.Pro103Leu

Select item 14317376529.

rs1431737652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113031088 (GRCh38)
2:113788665 (GRCh37)
Canonical SPDI:: NC_000002.12:113031087:A:G
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113031088A>G, NC_000002.11:g.113788665A>G, NM_014438.5:c.81T>C, NM_014438.4:c.81T>C, NM_173178.3:c.81T>C, NM_173178.2:c.81T>C, XM_011510962.1:c.81T>C

Select item 142422918210.

rs1424229182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113028008 (GRCh38)
2:113785585 (GRCh37)
Canonical SPDI:: NC_000002.12:113028007:A:G
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113028008A>G, NC_000002.11:g.113785585A>G, NM_173178.3:c.369T>C, NM_173178.2:c.369T>C, XM_011510962.1:c.369T>C

Select item 142277098011.

rs1422770980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:113028110 (GRCh38)
2:113785687 (GRCh37)
Canonical SPDI:: NC_000002.12:113028109:T:A,NC_000002.12:113028109:T:C
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113028110T>A, NC_000002.12:g.113028110T>C, NC_000002.11:g.113785687T>A, NC_000002.11:g.113785687T>C, NM_173178.3:c.267A>T, NM_173178.3:c.267A>G, NM_173178.2:c.267A>T, NM_173178.2:c.267A>G, XM_011510962.1:c.267A>T, XM_011510962.1:c.267A>G, NP_775270.1:p.Lys89Asn, XP_011509264.1:p.Lys89Asn

Select item 139678667512.

rs1396786675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113031105 (GRCh38)
2:113788682 (GRCh37)
Canonical SPDI:: NC_000002.12:113031104:A:G
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113031105A>G, NC_000002.11:g.113788682A>G, NM_014438.5:c.64T>C, NM_014438.4:c.64T>C, NM_173178.3:c.64T>C, NM_173178.2:c.64T>C, XM_011510962.1:c.64T>C, NP_055253.2:p.Trp22Arg, NP_775270.1:p.Trp22Arg, XP_011509264.1:p.Trp22Arg

Select item 139668051413.

rs1396680514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:113027927 (GRCh38)
2:113785504 (GRCh37)
Canonical SPDI:: NC_000002.12:113027926:G:C
Gene:: IL36B (Varview)
Functional Consequence:: intron_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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113027927G>C, NC_000002.11:g.113785504G>C, NM_173178.3:c.450C>G, NM_173178.2:c.450C>G, XM_011510962.1:c.450C>G, NP_775270.1:p.Asn150Lys, XP_011509264.1:p.Asn150Lys

Select item 139476762414.

rs1394767624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:113029040 (GRCh38)
2:113786617 (GRCh37)
Canonical SPDI:: NC_000002.12:113029039:T:A,NC_000002.12:113029039:T:C
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113029040T>A, NC_000002.12:g.113029040T>C, NC_000002.11:g.113786617T>A, NC_000002.11:g.113786617T>C, NM_014438.5:c.160A>T, NM_014438.5:c.160A>G, NM_014438.4:c.160A>T, NM_014438.4:c.160A>G, NM_173178.3:c.160A>T, NM_173178.3:c.160A>G, NM_173178.2:c.160A>T, NM_173178.2:c.160A>G, XM_011510962.1:c.160A>T, XM_011510962.1:c.160A>G, NP_055253.2:p.Ser54Cys, NP_055253.2:p.Ser54Gly, NP_775270.1:p.Ser54Cys, NP_775270.1:p.Ser54Gly, XP_011509264.1:p.Ser54Cys, XP_011509264.1:p.Ser54Gly

Select item 139370219115.

rs1393702191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:113028042 (GRCh38)
2:113785619 (GRCh37)
Canonical SPDI:: NC_000002.12:113028041:C:A
Gene:: IL36B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000002.12:g.113028042C>A, NC_000002.11:g.113785619C>A, NM_173178.3:c.335G>T, NM_173178.2:c.335G>T, XM_011510962.1:c.335G>T, NP_775270.1:p.Gly112Val, XP_011509264.1:p.Gly112Val

Select item 138978354616.

rs1389783546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113031108 (GRCh38)
2:113788685 (GRCh37)
Canonical SPDI:: NC_000002.12:113031107:C:T
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113031108C>T, NC_000002.11:g.113788685C>T, NM_014438.5:c.61G>A, NM_014438.4:c.61G>A, NM_173178.3:c.61G>A, NM_173178.2:c.61G>A, XM_011510962.1:c.61G>A, NP_055253.2:p.Val21Met, NP_775270.1:p.Val21Met, XP_011509264.1:p.Val21Met

Select item 138481370117.

rs1384813701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113031109 (GRCh38)
2:113788686 (GRCh37)
Canonical SPDI:: NC_000002.12:113031108:C:T
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113031109C>T, NC_000002.11:g.113788686C>T, NM_014438.5:c.60G>A, NM_014438.4:c.60G>A, NM_173178.3:c.60G>A, NM_173178.2:c.60G>A, XM_011510962.1:c.60G>A, NP_055253.2:p.Met20Ile, NP_775270.1:p.Met20Ile, XP_011509264.1:p.Met20Ile

Select item 137134091018.

rs1371340910 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:113028068 (GRCh38)
2:113785645 (GRCh37)
Canonical SPDI:: NC_000002.12:113028067:GGG:GG
Gene:: IL36B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113028070del, NC_000002.11:g.113785647del, NM_173178.3:c.309del, NM_173178.2:c.309del, XM_011510962.1:c.309del, NP_775270.1:p.Leu105fs, XP_011509264.1:p.Leu105fs

Select item 137102040119.

rs1371020401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113027991 (GRCh38)
2:113785568 (GRCh37)
Canonical SPDI:: NC_000002.12:113027990:G:A
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000002.12:g.113027991G>A, NC_000002.11:g.113785568G>A, NM_173178.3:c.386C>T, NM_173178.2:c.386C>T, XM_011510962.1:c.386C>T, NP_775270.1:p.Thr129Ile, XP_011509264.1:p.Thr129Ile

Select item 136579133120.

rs1365791331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:113029069 (GRCh38)
2:113786646 (GRCh37)
Canonical SPDI:: NC_000002.12:113029068:T:G
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.113029069T>G, NC_000002.11:g.113786646T>G, NM_014438.5:c.131A>C, NM_014438.4:c.131A>C, NM_173178.3:c.131A>C, NM_173178.2:c.131A>C, XM_011510962.1:c.131A>C, NP_055253.2:p.His44Pro, NP_775270.1:p.His44Pro, XP_011509264.1:p.His44Pro

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