SNP Links for Protein (Select 23503317) - SNP

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Links from Protein

Items: 1 to 20 of 682

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Select item 14904289521.

rs1490428952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7041322 (GRCh38)
4:7043049 (GRCh37)
Canonical SPDI:: NC_000004.12:7041321:G:A
Gene:: CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.7041322G>A, NC_000004.11:g.7043049G>A, NM_153376.3:c.1617C>T, NM_153376.2:c.1617C>T

Select item 14895337442.

rs1489533744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7042747 (GRCh38)
4:7044474 (GRCh37)
Canonical SPDI:: NC_000004.12:7042746:G:A
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7042747G>A, NC_000004.11:g.7044474G>A, NM_153376.3:c.192C>T, NM_153376.2:c.192C>T

Select item 14884968413.

rs1488496841 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 4:7041306 (GRCh38)
4:7043033 (GRCh37)
Canonical SPDI:: NC_000004.12:7041302:TCTTCT:TCT
Gene:: CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.7041303TCT[1], NC_000004.11:g.7043030TCT[1], NM_153376.3:c.1631AGA[1], NM_153376.2:c.1631AGA[1], NP_699207.1:p.Lys545del

Select item 14865773594.

rs1486577359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7041394 (GRCh38)
4:7043121 (GRCh37)
Canonical SPDI:: NC_000004.12:7041393:C:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7041394C>T, NC_000004.11:g.7043121C>T, NM_153376.3:c.1545G>A, NM_153376.2:c.1545G>A

Select item 14839990345.

rs1483999034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:7042239 (GRCh38)
4:7043966 (GRCh37)
Canonical SPDI:: NC_000004.12:7042238:A:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7042239A>T, NC_000004.11:g.7043966A>T, NM_153376.3:c.700T>A, NM_153376.2:c.700T>A, NP_699207.1:p.Ser234Thr

Select item 14830493476.

rs1483049347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:7042666 (GRCh38)
4:7044393 (GRCh37)
Canonical SPDI:: NC_000004.12:7042665:G:A,NC_000004.12:7042665:G:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.7042666G>A, NC_000004.12:g.7042666G>T, NC_000004.11:g.7044393G>A, NC_000004.11:g.7044393G>T, NM_153376.3:c.273C>T, NM_153376.3:c.273C>A, NM_153376.2:c.273C>T, NM_153376.2:c.273C>A

Select item 14825579197.

rs1482557919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:7041925 (GRCh38)
4:7043652 (GRCh37)
Canonical SPDI:: NC_000004.12:7041924:C:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7041925C>G, NC_000004.11:g.7043652C>G, NM_153376.3:c.1014G>C, NM_153376.2:c.1014G>C

Select item 14824259188.

rs1482425918 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:7042534 (GRCh38)
4:7044261 (GRCh37)
Canonical SPDI:: NC_000004.12:7042533:CCCC:CCC
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7042537del, NC_000004.11:g.7044264del, NM_153376.3:c.405del, NM_153376.2:c.405del, NP_699207.1:p.Lys136fs

Select item 14818423619.

rs1481842361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:7041914 (GRCh38)
4:7043641 (GRCh37)
Canonical SPDI:: NC_000004.12:7041913:A:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.7041914A>G, NC_000004.11:g.7043641A>G, NM_153376.3:c.1025T>C, NM_153376.2:c.1025T>C, NP_699207.1:p.Met342Thr

Select item 148061537210.

rs1480615372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7041381 (GRCh38)
4:7043108 (GRCh37)
Canonical SPDI:: NC_000004.12:7041380:G:A
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.7041381G>A, NC_000004.11:g.7043108G>A, NM_153376.3:c.1558C>T, NM_153376.2:c.1558C>T

Select item 147950746511.

rs1479507465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7042154 (GRCh38)
4:7043881 (GRCh37)
Canonical SPDI:: NC_000004.12:7042153:C:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7042154C>T, NC_000004.11:g.7043881C>T, NM_153376.3:c.785G>A, NM_153376.2:c.785G>A, NP_699207.1:p.Gly262Asp

Select item 147729427912.

rs1477294279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:7041644 (GRCh38)
4:7043371 (GRCh37)
Canonical SPDI:: NC_000004.12:7041643:A:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7041644A>G, NC_000004.11:g.7043371A>G, NM_153376.3:c.1295T>C, NM_153376.2:c.1295T>C, NP_699207.1:p.Leu432Pro

Select item 147655222313.

rs1476552223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7042291 (GRCh38)
4:7044018 (GRCh37)
Canonical SPDI:: NC_000004.12:7042290:G:A
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.7042291G>A, NC_000004.11:g.7044018G>A, NM_153376.3:c.648C>T, NM_153376.2:c.648C>T

Select item 147502534514.

rs1475025345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:7042477 (GRCh38)
4:7044204 (GRCh37)
Canonical SPDI:: NC_000004.12:7042476:A:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000004.12:g.7042477A>G, NC_000004.11:g.7044204A>G, NM_153376.3:c.462T>C, NM_153376.2:c.462T>C

Select item 147342461915.

rs1473424619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:7042303 (GRCh38)
4:7044030 (GRCh37)
Canonical SPDI:: NC_000004.12:7042302:C:G,NC_000004.12:7042302:C:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.7042303C>G, NC_000004.12:g.7042303C>T, NC_000004.11:g.7044030C>G, NC_000004.11:g.7044030C>T, NM_153376.3:c.636G>C, NM_153376.3:c.636G>A, NM_153376.2:c.636G>C, NM_153376.2:c.636G>A, NP_699207.1:p.Trp212Cys, NP_699207.1:p.Trp212Ter

Select item 147333585216.

rs1473335852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:7041884 (GRCh38)
4:7043611 (GRCh37)
Canonical SPDI:: NC_000004.12:7041883:T:C
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.7041884T>C, NC_000004.11:g.7043611T>C, NM_153376.3:c.1055A>G, NM_153376.2:c.1055A>G, NP_699207.1:p.Gln352Arg

Select item 147294591517.

rs1472945915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:7042176 (GRCh38)
4:7043903 (GRCh37)
Canonical SPDI:: NC_000004.12:7042175:C:A,NC_000004.12:7042175:C:G
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.7042176C>A, NC_000004.12:g.7042176C>G, NC_000004.11:g.7043903C>A, NC_000004.11:g.7043903C>G, NM_153376.3:c.763G>T, NM_153376.3:c.763G>C, NM_153376.2:c.763G>T, NM_153376.2:c.763G>C, NP_699207.1:p.Glu255Ter, NP_699207.1:p.Glu255Gln

Select item 147244225918.

rs1472442259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:7042640 (GRCh38)
4:7044367 (GRCh37)
Canonical SPDI:: NC_000004.12:7042639:G:A,NC_000004.12:7042639:G:C
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.7042640G>A, NC_000004.12:g.7042640G>C, NC_000004.11:g.7044367G>A, NC_000004.11:g.7044367G>C, NM_153376.3:c.299C>T, NM_153376.3:c.299C>G, NM_153376.2:c.299C>T, NM_153376.2:c.299C>G, NP_699207.1:p.Pro100Leu, NP_699207.1:p.Pro100Arg

Select item 147219663219.

rs1472196632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:7042496 (GRCh38)
4:7044223 (GRCh37)
Canonical SPDI:: NC_000004.12:7042495:C:T
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7042496C>T, NC_000004.11:g.7044223C>T, NM_153376.3:c.443G>A, NM_153376.2:c.443G>A, NP_699207.1:p.Arg148Lys

Select item 147121660720.

rs1471216607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:7041477 (GRCh38)
4:7043204 (GRCh37)
Canonical SPDI:: NC_000004.12:7041476:G:A
Gene:: TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.7041477G>A, NC_000004.11:g.7043204G>A, NM_153376.3:c.1462C>T, NM_153376.2:c.1462C>T