SNP Links for Protein (Select 1034613385) - SNP

Links from Protein

Items: 1 to 20 of 230

<< First< Prev

Page of 12

Next >Last >>

Select item 14894520331.

rs1489452033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121248189 (GRCh38)
2:122005765 (GRCh37)
Canonical SPDI:: NC_000002.12:121248188:G:A
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.121248189G>A, NC_000002.11:g.122005765G>A, NM_014553.3:c.479C>T, NM_014553.2:c.479C>T, XM_017003902.2:c.479C>T, XM_017003902.1:c.479C>T, XM_017003904.2:c.479C>T, XM_017003904.1:c.479C>T, XM_017003905.2:c.479C>T, XM_017003905.1:c.479C>T, XM_047444020.1:c.-221C>T, XM_047444021.1:c.-221C>T, NP_055368.1:p.Ala160Val, XP_016859391.1:p.Ala160Val, XP_016859393.1:p.Ala160Val, XP_016859394.1:p.Ala160Val

Select item 14869246572.

rs1486924657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121281130 (GRCh38)
2:122038706 (GRCh37)
Canonical SPDI:: NC_000002.12:121281129:G:A
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.121281130G>A, NC_000002.11:g.122038706G>A, NM_014553.3:c.204C>T, NM_014553.2:c.204C>T, XM_017003902.2:c.204C>T, XM_017003902.1:c.204C>T, XM_017003904.2:c.204C>T, XM_017003904.1:c.204C>T, XM_017003905.2:c.204C>T, XM_017003905.1:c.204C>T, XM_047444020.1:c.-496C>T, XM_047444021.1:c.-686C>T

Select item 14847638273.

rs1484763827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121249042 (GRCh38)
2:122006618 (GRCh37)
Canonical SPDI:: NC_000002.12:121249041:C:T
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.121249042C>T, NC_000002.11:g.122006618C>T, NM_014553.3:c.337G>A, NM_014553.2:c.337G>A, XM_017003902.2:c.337G>A, XM_017003902.1:c.337G>A, XM_017003904.2:c.337G>A, XM_017003904.1:c.337G>A, XM_017003905.2:c.337G>A, XM_017003905.1:c.337G>A, XM_047444020.1:c.-363G>A, XM_047444021.1:c.-363G>A, NP_055368.1:p.Glu113Lys, XP_016859391.1:p.Glu113Lys, XP_016859393.1:p.Glu113Lys, XP_016859394.1:p.Glu113Lys

Select item 14684241474.

rs1468424147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:121249634 (GRCh38)
2:122007210 (GRCh37)
Canonical SPDI:: NC_000002.12:121249633:T:G
Gene:: TFCP2L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121249634T>G, NC_000002.11:g.122007210T>G, NM_014553.3:c.228A>C, NM_014553.2:c.228A>C, XM_017003902.2:c.228A>C, XM_017003902.1:c.228A>C, XM_017003904.2:c.228A>C, XM_017003904.1:c.228A>C, XM_017003905.2:c.228A>C, XM_017003905.1:c.228A>C, XM_047444020.1:c.-472A>C, XM_047444021.1:c.-472A>C, NP_055368.1:p.Glu76Asp, XP_016859391.1:p.Glu76Asp, XP_016859393.1:p.Glu76Asp, XP_016859394.1:p.Glu76Asp

Select item 14624532975.

rs1462453297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121248252 (GRCh38)
2:122005828 (GRCh37)
Canonical SPDI:: NC_000002.12:121248251:C:T
Gene:: TFCP2L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121248252C>T, NC_000002.11:g.122005828C>T, NM_014553.3:c.416G>A, NM_014553.2:c.416G>A, XM_017003902.2:c.416G>A, XM_017003902.1:c.416G>A, XM_017003904.2:c.416G>A, XM_017003904.1:c.416G>A, XM_017003905.2:c.416G>A, XM_017003905.1:c.416G>A, XM_047444020.1:c.-284G>A, XM_047444021.1:c.-284G>A, NP_055368.1:p.Gly139Asp, XP_016859391.1:p.Gly139Asp, XP_016859393.1:p.Gly139Asp, XP_016859394.1:p.Gly139Asp

Select item 14619220056.

rs1461922005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:121281235 (GRCh38)
2:122038811 (GRCh37)
Canonical SPDI:: NC_000002.12:121281234:T:C
Gene:: TFCP2L1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121281235T>C, NC_000002.11:g.122038811T>C, NM_014553.3:c.99A>G, NM_014553.2:c.99A>G, XM_017003902.2:c.99A>G, XM_017003902.1:c.99A>G, XM_017003904.2:c.99A>G, XM_017003904.1:c.99A>G, XM_017003905.2:c.99A>G, XM_017003905.1:c.99A>G, XM_047444020.1:c.-601A>G

Select item 14574361747.

rs1457436174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121285056 (GRCh38)
2:122042632 (GRCh37)
Canonical SPDI:: NC_000002.12:121285055:G:A
Gene:: TFCP2L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121285056G>A, NC_000002.11:g.122042632G>A, NM_014553.3:c.54C>T, NM_014553.2:c.54C>T, XM_017003902.2:c.54C>T, XM_017003902.1:c.54C>T, XM_017003904.2:c.54C>T, XM_017003904.1:c.54C>T, XM_017003905.2:c.54C>T, XM_017003905.1:c.54C>T

Select item 14522705248.

rs1452270524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121248211 (GRCh38)
2:122005787 (GRCh37)
Canonical SPDI:: NC_000002.12:121248210:C:T
Gene:: TFCP2L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121248211C>T, NC_000002.11:g.122005787C>T, NM_014553.3:c.457G>A, NM_014553.2:c.457G>A, XM_017003902.2:c.457G>A, XM_017003902.1:c.457G>A, XM_017003904.2:c.457G>A, XM_017003904.1:c.457G>A, XM_017003905.2:c.457G>A, XM_017003905.1:c.457G>A, XM_047444020.1:c.-243G>A, XM_047444021.1:c.-243G>A, NP_055368.1:p.Val153Ile, XP_016859391.1:p.Val153Ile, XP_016859393.1:p.Val153Ile, XP_016859394.1:p.Val153Ile

Select item 14478235039.

rs1447823503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121249646 (GRCh38)
2:122007222 (GRCh37)
Canonical SPDI:: NC_000002.12:121249645:A:G
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.121249646A>G, NC_000002.11:g.122007222A>G, NM_014553.3:c.216T>C, NM_014553.2:c.216T>C, XM_017003902.2:c.216T>C, XM_017003902.1:c.216T>C, XM_017003904.2:c.216T>C, XM_017003904.1:c.216T>C, XM_017003905.2:c.216T>C, XM_017003905.1:c.216T>C, XM_047444020.1:c.-484T>C, XM_047444021.1:c.-484T>C

Select item 144429803210.

rs1444298032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121249061 (GRCh38)
2:122006637 (GRCh37)
Canonical SPDI:: NC_000002.12:121249060:G:A
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.121249061G>A, NC_000002.11:g.122006637G>A, NM_014553.3:c.318C>T, NM_014553.2:c.318C>T, XM_017003902.2:c.318C>T, XM_017003902.1:c.318C>T, XM_017003904.2:c.318C>T, XM_017003904.1:c.318C>T, XM_017003905.2:c.318C>T, XM_017003905.1:c.318C>T, XM_047444020.1:c.-382C>T, XM_047444021.1:c.-382C>T

Select item 144281848911.

rs1442818489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121281124 (GRCh38)
2:122038700 (GRCh37)
Canonical SPDI:: NC_000002.12:121281123:G:A
Gene:: TFCP2L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.00034/1 (KOREAN)
A=0.00035/6 (TOMMO)
HGVS:: NC_000002.12:g.121281124G>A, NC_000002.11:g.122038700G>A, NM_014553.3:c.210C>T, NM_014553.2:c.210C>T, XM_017003902.2:c.210C>T, XM_017003902.1:c.210C>T, XM_017003904.2:c.210C>T, XM_017003904.1:c.210C>T, XM_017003905.2:c.210C>T, XM_017003905.1:c.210C>T, XM_047444020.1:c.-490C>T, XM_047444021.1:c.-680C>T

Select item 144218355712.

rs1442183557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121281261 (GRCh38)
2:122038837 (GRCh37)
Canonical SPDI:: NC_000002.12:121281260:C:T
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121281261C>T, NC_000002.11:g.122038837C>T, NM_014553.3:c.73G>A, NM_014553.2:c.73G>A, XM_017003902.2:c.73G>A, XM_017003902.1:c.73G>A, XM_017003904.2:c.73G>A, XM_017003904.1:c.73G>A, XM_017003905.2:c.73G>A, XM_017003905.1:c.73G>A, XM_047444020.1:c.-627G>A, NP_055368.1:p.Ala25Thr, XP_016859391.1:p.Ala25Thr, XP_016859393.1:p.Ala25Thr, XP_016859394.1:p.Ala25Thr

Select item 143780132113.

rs1437801321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121248255 (GRCh38)
2:122005831 (GRCh37)
Canonical SPDI:: NC_000002.12:121248254:A:G
Gene:: TFCP2L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.121248255A>G, NC_000002.11:g.122005831A>G, NM_014553.3:c.413T>C, NM_014553.2:c.413T>C, XM_017003902.2:c.413T>C, XM_017003902.1:c.413T>C, XM_017003904.2:c.413T>C, XM_017003904.1:c.413T>C, XM_017003905.2:c.413T>C, XM_017003905.1:c.413T>C, XM_047444020.1:c.-287T>C, XM_047444021.1:c.-287T>C, NP_055368.1:p.Val138Ala, XP_016859391.1:p.Val138Ala, XP_016859393.1:p.Val138Ala, XP_016859394.1:p.Val138Ala

Select item 143623635014.

rs1436236350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121281186 (GRCh38)
2:122038762 (GRCh37)
Canonical SPDI:: NC_000002.12:121281185:C:T
Gene:: TFCP2L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000002.12:g.121281186C>T, NC_000002.11:g.122038762C>T, NM_014553.3:c.148G>A, NM_014553.2:c.148G>A, XM_017003902.2:c.148G>A, XM_017003902.1:c.148G>A, XM_017003904.2:c.148G>A, XM_017003904.1:c.148G>A, XM_017003905.2:c.148G>A, XM_017003905.1:c.148G>A, XM_047444020.1:c.-552G>A, XM_047444021.1:c.-742G>A, NP_055368.1:p.Val50Met, XP_016859391.1:p.Val50Met, XP_016859393.1:p.Val50Met, XP_016859394.1:p.Val50Met

Select item 143226442615.

rs1432264426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:121281141 (GRCh38)
2:122038717 (GRCh37)
Canonical SPDI:: NC_000002.12:121281140:T:C
Gene:: TFCP2L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_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.121281141T>C, NC_000002.11:g.122038717T>C, NM_014553.3:c.193A>G, NM_014553.2:c.193A>G, XM_017003902.2:c.193A>G, XM_017003902.1:c.193A>G, XM_017003904.2:c.193A>G, XM_017003904.1:c.193A>G, XM_017003905.2:c.193A>G, XM_017003905.1:c.193A>G, XM_047444020.1:c.-507A>G, XM_047444021.1:c.-697A>G, NP_055368.1:p.Thr65Ala, XP_016859391.1:p.Thr65Ala, XP_016859393.1:p.Thr65Ala, XP_016859394.1:p.Thr65Ala

Select item 143106721116.

rs1431067211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121281229 (GRCh38)
2:122038805 (GRCh37)
Canonical SPDI:: NC_000002.12:121281228:C:T
Gene:: TFCP2L1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121281229C>T, NC_000002.11:g.122038805C>T, NM_014553.3:c.105G>A, NM_014553.2:c.105G>A, XM_017003902.2:c.105G>A, XM_017003902.1:c.105G>A, XM_017003904.2:c.105G>A, XM_017003904.1:c.105G>A, XM_017003905.2:c.105G>A, XM_017003905.1:c.105G>A, XM_047444020.1:c.-595G>A

Select item 142725414717.

rs1427254147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:121248232 (GRCh38)
2:122005808 (GRCh37)
Canonical SPDI:: NC_000002.12:121248231:T:C
Gene:: TFCP2L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.121248232T>C, NC_000002.11:g.122005808T>C, NM_014553.3:c.436A>G, NM_014553.2:c.436A>G, XM_017003902.2:c.436A>G, XM_017003902.1:c.436A>G, XM_017003904.2:c.436A>G, XM_017003904.1:c.436A>G, XM_017003905.2:c.436A>G, XM_017003905.1:c.436A>G, XM_047444020.1:c.-264A>G, XM_047444021.1:c.-264A>G, NP_055368.1:p.Ser146Gly, XP_016859391.1:p.Ser146Gly, XP_016859393.1:p.Ser146Gly, XP_016859394.1:p.Ser146Gly

Select item 141807663018.

rs1418076630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:121285071 (GRCh38)
2:122042647 (GRCh37)
Canonical SPDI:: NC_000002.12:121285070:C:A,NC_000002.12:121285070:C:T
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.121285071C>A, NC_000002.12:g.121285071C>T, NC_000002.11:g.122042647C>A, NC_000002.11:g.122042647C>T, NM_014553.3:c.39G>T, NM_014553.3:c.39G>A, NM_014553.2:c.39G>T, NM_014553.2:c.39G>A, XM_017003902.2:c.39G>T, XM_017003902.2:c.39G>A, XM_017003902.1:c.39G>T, XM_017003902.1:c.39G>A, XM_017003904.2:c.39G>T, XM_017003904.2:c.39G>A, XM_017003904.1:c.39G>T, XM_017003904.1:c.39G>A, XM_017003905.2:c.39G>T, XM_017003905.2:c.39G>A, XM_017003905.1:c.39G>T, XM_017003905.1:c.39G>A, NP_055368.1:p.Gln13His, XP_016859391.1:p.Gln13His, XP_016859393.1:p.Gln13His, XP_016859394.1:p.Gln13His

Select item 141347918619.

rs1413479186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121281138 (GRCh38)
2:122038714 (GRCh37)
Canonical SPDI:: NC_000002.12:121281137:G:A
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121281138G>A, NC_000002.11:g.122038714G>A, NM_014553.3:c.196C>T, NM_014553.2:c.196C>T, XM_017003902.2:c.196C>T, XM_017003902.1:c.196C>T, XM_017003904.2:c.196C>T, XM_017003904.1:c.196C>T, XM_017003905.2:c.196C>T, XM_017003905.1:c.196C>T, XM_047444020.1:c.-504C>T, XM_047444021.1:c.-694C>T

Select item 141209598020.

rs1412095980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121285049 (GRCh38)
2:122042625 (GRCh37)
Canonical SPDI:: NC_000002.12:121285048:G:A
Gene:: TFCP2L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.121285049G>A, NC_000002.11:g.122042625G>A, NM_014553.3:c.61C>T, NM_014553.2:c.61C>T, XM_017003902.2:c.61C>T, XM_017003902.1:c.61C>T, XM_017003904.2:c.61C>T, XM_017003904.1:c.61C>T, XM_017003905.2:c.61C>T, XM_017003905.1:c.61C>T, NP_055368.1:p.Arg21Cys, XP_016859391.1:p.Arg21Cys, XP_016859393.1:p.Arg21Cys, XP_016859394.1:p.Arg21Cys

<< First< Prev

Page of 12

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 230

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity