SNP Links for Protein (Select 54144650) - SNP

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Links from Protein

Items: 1 to 20 of 129

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Select item 14898106991.

rs1489810699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:74038528 (GRCh38)
4:74904245 (GRCh37)
Canonical SPDI:: NC_000004.12:74038527:G:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.74038528G>A, NC_000004.11:g.74904245G>A, NM_002090.3:c.84C>T, NM_002090.2:c.84C>T

Select item 14790611052.

rs1479061105 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:74038572 (GRCh38)
4:74904289 (GRCh37)
Canonical SPDI:: NC_000004.12:74038571:GGGG:GGG
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.74038575del, NC_000004.11:g.74904292del, NM_002090.3:c.40del, NM_002090.2:c.40del, NP_002081.2:p.Arg14fs

Select item 14780044223.

rs1478004422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:74038174 (GRCh38)
4:74903891 (GRCh37)
Canonical SPDI:: NC_000004.12:74038173:G:T
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.74038174G>T, NC_000004.11:g.74903891G>T, NM_002090.3:c.227C>A, NM_002090.2:c.227C>A, NP_002081.2:p.Ala76Asp

Select item 14766270194.

rs1476627019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:74038093 (GRCh38)
4:74903810 (GRCh37)
Canonical SPDI:: NC_000004.12:74038092:T:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.74038093T>A, NC_000004.11:g.74903810T>A, NM_002090.3:c.308A>T, NM_002090.2:c.308A>T, NP_002081.2:p.Lys103Met

Select item 14410926015.

rs1441092601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:74038518 (GRCh38)
4:74904235 (GRCh37)
Canonical SPDI:: NC_000004.12:74038517:C:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.74038518C>A, NC_000004.11:g.74904235C>A, NM_002090.3:c.94G>T, NM_002090.2:c.94G>T, NP_002081.2:p.Ala32Ser

Select item 14249107886.

rs1424910788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:74038580 (GRCh38)
4:74904297 (GRCh37)
Canonical SPDI:: NC_000004.12:74038579:C:G
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.74038580C>G, NC_000004.11:g.74904297C>G, NM_002090.3:c.32G>C, NM_002090.2:c.32G>C, NP_002081.2:p.Ser11Thr

Select item 14144340077.

rs1414434007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:74038413 (GRCh38)
4:74904130 (GRCh37)
Canonical SPDI:: NC_000004.12:74038412:C:G
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.74038413C>G, NC_000004.11:g.74904130C>G, NM_002090.3:c.101G>C, NM_002090.2:c.101G>C, NP_002081.2:p.Gly34Ala

Select item 14088618248.

rs1408861824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:74038585 (GRCh38)
4:74904302 (GRCh37)
Canonical SPDI:: NC_000004.12:74038584:G:A,NC_000004.12:74038584:G:C
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.74038585G>A, NC_000004.12:g.74038585G>C, NC_000004.11:g.74904302G>A, NC_000004.11:g.74904302G>C, NM_002090.3:c.27C>T, NM_002090.3:c.27C>G, NM_002090.2:c.27C>T, NM_002090.2:c.27C>G

Select item 14040778279.

rs1404077827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:74038338 (GRCh38)
4:74904055 (GRCh37)
Canonical SPDI:: NC_000004.12:74038337:C:G
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.74038338C>G, NC_000004.11:g.74904055C>G, NM_002090.3:c.176G>C, NM_002090.2:c.176G>C, NP_002081.2:p.Ser59Thr

Select item 139755617910.

rs1397556179 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:74038582 (GRCh38)
4:74904299 (GRCh37)
Canonical SPDI:: NC_000004.12:74038581:GGGGG:GGGG
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.74038586del, NC_000004.11:g.74904303del, NM_002090.3:c.30del, NM_002090.2:c.30del, NP_002081.2:p.Ser11fs

Select item 139231695511.

rs1392316955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:74038103 (GRCh38)
4:74903820 (GRCh37)
Canonical SPDI:: NC_000004.12:74038102:T:A,NC_000004.12:74038102:T:C
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.74038103T>A, NC_000004.12:g.74038103T>C, NC_000004.11:g.74903820T>A, NC_000004.11:g.74903820T>C, NM_002090.3:c.298A>T, NM_002090.3:c.298A>G, NM_002090.2:c.298A>T, NM_002090.2:c.298A>G, NP_002081.2:p.Ile100Leu, NP_002081.2:p.Ile100Val

Select item 139021997512.

rs1390219975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:74038374 (GRCh38)
4:74904091 (GRCh37)
Canonical SPDI:: NC_000004.12:74038373:T:C
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.74038374T>C, NC_000004.11:g.74904091T>C, NM_002090.3:c.140A>G, NM_002090.2:c.140A>G, NP_002081.2:p.Gln47Arg

Select item 137576679713.

rs1375766797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:74038300 (GRCh38)
4:74904017 (GRCh37)
Canonical SPDI:: NC_000004.12:74038299:T:C
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.74038300T>C, NC_000004.11:g.74904017T>C, NM_002090.3:c.214A>G, NM_002090.2:c.214A>G, NP_002081.2:p.Thr72Ala

Select item 137423165914.

rs1374231659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:74038517 (GRCh38)
4:74904234 (GRCh37)
Canonical SPDI:: NC_000004.12:74038516:G:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.74038517G>A, NC_000004.11:g.74904234G>A, NM_002090.3:c.95C>T, NM_002090.2:c.95C>T, NP_002081.2:p.Ala32Val

Select item 135119742615.

rs1351197426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:74038591 (GRCh38)
4:74904308 (GRCh37)
Canonical SPDI:: NC_000004.12:74038590:G:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.74038591G>A, NC_000004.11:g.74904308G>A, NM_002090.3:c.21C>T, NM_002090.2:c.21C>T

Select item 134222900016.

rs1342229000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:74038586 (GRCh38)
4:74904303 (GRCh37)
Canonical SPDI:: NC_000004.12:74038585:G:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.74038586G>A, NC_000004.11:g.74904303G>A, NM_002090.3:c.26C>T, NM_002090.2:c.26C>T, NP_002081.2:p.Ala9Val

Select item 134107299117.

rs1341072991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:74038603 (GRCh38)
4:74904320 (GRCh37)
Canonical SPDI:: NC_000004.12:74038602:G:T
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.74038603G>T, NC_000004.11:g.74904320G>T, NM_002090.3:c.9C>A, NM_002090.2:c.9C>A, NP_002081.2:p.His3Gln

Select item 133095676518.

rs1330956765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:74038321 (GRCh38)
4:74904038 (GRCh37)
Canonical SPDI:: NC_000004.12:74038320:G:T
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.74038321G>T, NC_000004.11:g.74904038G>T, NM_002090.3:c.193C>A, NM_002090.2:c.193C>A, NP_002081.2:p.Pro65Thr

Select item 132387359119.

rs1323873591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:74038589 (GRCh38)
4:74904306 (GRCh37)
Canonical SPDI:: NC_000004.12:74038588:G:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.74038589G>A, NC_000004.11:g.74904306G>A, NM_002090.3:c.23C>T, NM_002090.2:c.23C>T, NP_002081.2:p.Ala8Val

Select item 131300591220.

rs1313005912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:74038562 (GRCh38)
4:74904279 (GRCh37)
Canonical SPDI:: NC_000004.12:74038561:C:A
Gene:: CXCL3 (Varview), LOC105377275 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_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_000004.12:g.74038562C>A, NC_000004.11:g.74904279C>A, NM_002090.3:c.50G>T, NM_002090.2:c.50G>T, NP_002081.2:p.Arg17Leu