SNP Links for Protein (Select 194239688) - SNP

Links from Protein

Items: 1 to 20 of 93

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Select item 14859987651.

rs1485998765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227813963 (GRCh38)
2:228678679 (GRCh37)
Canonical SPDI:: NC_000002.12:227813962:C:T
Gene:: CCL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.227813963C>T, NC_000002.11:g.228678679C>T, NM_004591.3:c.52C>T, NM_004591.2:c.52C>T, NM_001130046.2:c.52C>T, NM_001130046.1:c.52C>T, NP_004582.1:p.Leu18Phe, NP_001123518.1:p.Leu18Phe

Select item 14827372192.

rs1482737219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227816369 (GRCh38)
2:228681085 (GRCh37)
Canonical SPDI:: NC_000002.12:227816368:T:C
Gene:: CCL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227816369T>C, NC_000002.11:g.228681085T>C, NM_004591.3:c.254T>C, NM_004591.2:c.254T>C, NM_001130046.2:c.251T>C, NM_001130046.1:c.251T>C, NP_004582.1:p.Ile85Thr, NP_001123518.1:p.Ile84Thr

Select item 14608960043.

rs1460896004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:227813975 (GRCh38)
2:228678691 (GRCh37)
Canonical SPDI:: NC_000002.12:227813974:G:A,NC_000002.12:227813974:G:C
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.227813975G>A, NC_000002.12:g.227813975G>C, NC_000002.11:g.228678691G>A, NC_000002.11:g.228678691G>C, NM_004591.3:c.64G>A, NM_004591.3:c.64G>C, NM_004591.2:c.64G>A, NM_004591.2:c.64G>C, NM_001130046.2:c.64G>A, NM_001130046.2:c.64G>C, NM_001130046.1:c.64G>A, NM_001130046.1:c.64G>C, NP_004582.1:p.Gly22Ser, NP_004582.1:p.Gly22Arg, NP_001123518.1:p.Gly22Ser, NP_001123518.1:p.Gly22Arg

Select item 14503447074.

rs1450344707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227815522 (GRCh38)
2:228680238 (GRCh37)
Canonical SPDI:: NC_000002.12:227815521:T:C
Gene:: CCL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.227815522T>C, NC_000002.11:g.228680238T>C, NM_004591.3:c.145T>C, NM_004591.2:c.145T>C, NM_001130046.2:c.142T>C, NM_001130046.1:c.142T>C, NP_004582.1:p.Phe49Leu, NP_001123518.1:p.Phe48Leu

Select item 14365610425.

rs1436561042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:227816328 (GRCh38)
2:228681044 (GRCh37)
Canonical SPDI:: NC_000002.12:227816327:G:T
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227816328G>T, NC_000002.11:g.228681044G>T, NM_004591.3:c.213G>T, NM_004591.2:c.213G>T, NM_001130046.2:c.210G>T, NM_001130046.1:c.210G>T, NP_004582.1:p.Leu71Phe, NP_001123518.1:p.Leu70Phe

Select item 14342390126.

rs1434239012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:227815547 (GRCh38)
2:228680263 (GRCh37)
Canonical SPDI:: NC_000002.12:227815546:G:T
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.227815547G>T, NC_000002.11:g.228680263G>T, NM_004591.3:c.170G>T, NM_004591.2:c.170G>T, NM_001130046.2:c.167G>T, NM_001130046.1:c.167G>T, NP_004582.1:p.Gly57Val, NP_001123518.1:p.Gly56Val

Select item 14342150467.

rs1434215046 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:227813939 (GRCh38)
2:228678656 (GRCh37)
Canonical SPDI:: NC_000002.12:227813939::A
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.227813939_227813940insA, NC_000002.11:g.228678655_228678656insA, NM_004591.3:c.28_29insA, NM_004591.2:c.28_29insA, NM_001130046.2:c.28_29insA, NM_001130046.1:c.28_29insA, NP_004582.1:p.Ala10fs, NP_001123518.1:p.Ala10fs

Select item 14308532848.

rs1430853284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:227815491 (GRCh38)
2:228680207 (GRCh37)
Canonical SPDI:: NC_000002.12:227815490:C:G,NC_000002.12:227815490:C:T
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.227815491C>G, NC_000002.12:g.227815491C>T, NC_000002.11:g.228680207C>G, NC_000002.11:g.228680207C>T, NM_004591.3:c.114C>G, NM_004591.3:c.114C>T, NM_004591.2:c.114C>G, NM_004591.2:c.114C>T, NM_001130046.2:c.111C>G, NM_001130046.2:c.111C>T, NM_001130046.1:c.111C>G, NM_001130046.1:c.111C>T, NP_004582.1:p.Asp38Glu, NP_001123518.1:p.Asp37Glu

Select item 14186259389.

rs1418625938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227817080 (GRCh38)
2:228681796 (GRCh37)
Canonical SPDI:: NC_000002.12:227817079:G:A
Gene:: CCL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.227817080G>A, NC_000002.11:g.228681796G>A, NM_004591.3:c.288G>A, NM_004591.2:c.288G>A, NM_001130046.2:c.285G>A, NM_001130046.1:c.285G>A, NP_004582.1:p.Met96Ile, NP_001123518.1:p.Met95Ile

Select item 141798953710.

rs1417989537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227815489 (GRCh38)
2:228680205 (GRCh37)
Canonical SPDI:: NC_000002.12:227815488:G:A
Gene:: CCL20 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227815489G>A, NC_000002.11:g.228680205G>A, NM_004591.3:c.112G>A, NM_004591.2:c.112G>A, NM_001130046.2:c.109G>A, NM_001130046.1:c.109G>A, NP_004582.1:p.Asp38Asn, NP_001123518.1:p.Asp37Asn

Select item 141546016811.

rs1415460168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:227813922 (GRCh38)
2:228678638 (GRCh37)
Canonical SPDI:: NC_000002.12:227813921:C:A,NC_000002.12:227813921:C:G
Gene:: CCL20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227813922C>A, NC_000002.12:g.227813922C>G, NC_000002.11:g.228678638C>A, NC_000002.11:g.228678638C>G, NM_004591.3:c.11C>A, NM_004591.3:c.11C>G, NM_004591.2:c.11C>A, NM_004591.2:c.11C>G, NM_001130046.2:c.11C>A, NM_001130046.2:c.11C>G, NM_001130046.1:c.11C>A, NM_001130046.1:c.11C>G, NP_004582.1:p.Thr4Asn, NP_004582.1:p.Thr4Ser, NP_001123518.1:p.Thr4Asn, NP_001123518.1:p.Thr4Ser

Select item 140736694212.

rs1407366942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227813971 (GRCh38)
2:228678687 (GRCh37)
Canonical SPDI:: NC_000002.12:227813970:C:T
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.227813971C>T, NC_000002.11:g.228678687C>T, NM_004591.3:c.60C>T, NM_004591.2:c.60C>T, NM_001130046.2:c.60C>T, NM_001130046.1:c.60C>T

Select item 140106205413.

rs1401062054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:227816313 (GRCh38)
2:228681029 (GRCh37)
Canonical SPDI:: NC_000002.12:227816312:C:G,NC_000002.12:227816312:C:T
Gene:: CCL20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.227816313C>G, NC_000002.12:g.227816313C>T, NC_000002.11:g.228681029C>G, NC_000002.11:g.228681029C>T, NM_004591.3:c.198C>G, NM_004591.3:c.198C>T, NM_004591.2:c.198C>G, NM_004591.2:c.198C>T, NM_001130046.2:c.195C>G, NM_001130046.2:c.195C>T, NM_001130046.1:c.195C>G, NM_001130046.1:c.195C>T, NP_004582.1:p.His66Gln, NP_001123518.1:p.His65Gln

Select item 139298830014.

rs1392988300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227816382 (GRCh38)
2:228681098 (GRCh37)
Canonical SPDI:: NC_000002.12:227816381:C:T
Gene:: CCL20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.227816382C>T, NC_000002.11:g.228681098C>T, NM_004591.3:c.267C>T, NM_004591.2:c.267C>T, NM_001130046.2:c.264C>T, NM_001130046.1:c.264C>T

Select item 139189996115.

rs1391899961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227813972 (GRCh38)
2:228678688 (GRCh37)
Canonical SPDI:: NC_000002.12:227813971:T:C
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.227813972T>C, NC_000002.11:g.228678688T>C, NM_004591.3:c.61T>C, NM_004591.2:c.61T>C, NM_001130046.2:c.61T>C, NM_001130046.1:c.61T>C, NP_004582.1:p.Cys21Arg, NP_001123518.1:p.Cys21Arg

Select item 137779176516.

rs1377791765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227813986 (GRCh38)
2:228678702 (GRCh37)
Canonical SPDI:: NC_000002.12:227813985:A:G
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227813986A>G, NC_000002.11:g.228678702A>G, NM_004591.3:c.75A>G, NM_004591.2:c.75A>G, NM_001130046.2:c.75A>G, NM_001130046.1:c.75A>G

Select item 137352520317.

rs1373525203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227816325 (GRCh38)
2:228681041 (GRCh37)
Canonical SPDI:: NC_000002.12:227816324:G:A
Gene:: CCL20 (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=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.227816325G>A, NC_000002.11:g.228681041G>A, NM_004591.3:c.210G>A, NM_004591.2:c.210G>A, NM_001130046.2:c.207G>A, NM_001130046.1:c.207G>A

Select item 136827432518.

rs1368274325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227813955 (GRCh38)
2:228678671 (GRCh37)
Canonical SPDI:: NC_000002.12:227813954:T:C
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.227813955T>C, NC_000002.11:g.228678671T>C, NM_004591.3:c.44T>C, NM_004591.2:c.44T>C, NM_001130046.2:c.44T>C, NM_001130046.1:c.44T>C, NP_004582.1:p.Val15Ala, NP_001123518.1:p.Val15Ala

Select item 136680397219.

rs1366803972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227813928 (GRCh38)
2:228678644 (GRCh37)
Canonical SPDI:: NC_000002.12:227813927:G:A
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.227813928G>A, NC_000002.11:g.228678644G>A, NM_004591.3:c.17G>A, NM_004591.2:c.17G>A, NM_001130046.2:c.17G>A, NM_001130046.1:c.17G>A, NP_004582.1:p.Ser6Asn, NP_001123518.1:p.Ser6Asn

Select item 132704283920.

rs1327042839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227817070 (GRCh38)
2:228681786 (GRCh37)
Canonical SPDI:: NC_000002.12:227817069:T:C
Gene:: CCL20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227817070T>C, NC_000002.11:g.228681786T>C, NM_004591.3:c.278T>C, NM_004591.2:c.278T>C, NM_001130046.2:c.275T>C, NM_001130046.1:c.275T>C, NP_004582.1:p.Val93Ala, NP_001123518.1:p.Val92Ala

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