SNP Links for Protein (Select 169234647) - SNP

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Links from Protein

Items: 1 to 20 of 521

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Select item 14904960851.

rs1490496085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4596863 (GRCh38)
17:4500158 (GRCh37)
Canonical SPDI:: NC_000017.11:4596862:G:A,NC_000017.11:4596862:G:C
Gene:: SMTNL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.4596863G>A, NC_000017.11:g.4596863G>C, NC_000017.10:g.4500158G>A, NC_000017.10:g.4500158G>C, NM_198501.3:c.561G>A, NM_198501.3:c.561G>C, NM_198501.2:c.561G>A, NM_198501.2:c.561G>C, NM_001114974.2:c.993G>A, NM_001114974.2:c.993G>C, NM_001114974.1:c.993G>A, NM_001114974.1:c.993G>C, NM_001375361.1:c.750G>A, NM_001375361.1:c.750G>C

Select item 14859823172.

rs1485982317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4584702 (GRCh38)
17:4487997 (GRCh37)
Canonical SPDI:: NC_000017.11:4584701:G:C
Gene:: SMTNL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.4584702G>C, NC_000017.10:g.4487997G>C, NM_001114974.2:c.97G>C, NM_001114974.1:c.97G>C, NM_001375361.1:c.97G>C, NP_001108446.1:p.Glu33Gln, NP_001362290.1:p.Glu33Gln

Select item 14847235273.

rs1484723527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4596905 (GRCh38)
17:4500200 (GRCh37)
Canonical SPDI:: NC_000017.11:4596904:C:T
Gene:: SMTNL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4596905C>T, NC_000017.10:g.4500200C>T, NM_198501.3:c.603C>T, NM_198501.2:c.603C>T, NM_001114974.2:c.1035C>T, NM_001114974.1:c.1035C>T, NM_001375361.1:c.792C>T

Select item 14808094074.

rs1480809407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4584770 (GRCh38)
17:4488065 (GRCh37)
Canonical SPDI:: NC_000017.11:4584769:C:T
Gene:: SMTNL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4584770C>T, NC_000017.10:g.4488065C>T, NM_001114974.2:c.165C>T, NM_001114974.1:c.165C>T, NM_001375361.1:c.165C>T

Select item 14787930575.

rs1478793057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4584778 (GRCh38)
17:4488073 (GRCh37)
Canonical SPDI:: NC_000017.11:4584777:G:A
Gene:: SMTNL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.4584778G>A, NC_000017.10:g.4488073G>A, NM_001114974.2:c.173G>A, NM_001114974.1:c.173G>A, NM_001375361.1:c.173G>A, NP_001108446.1:p.Arg58His, NP_001362290.1:p.Arg58His

Select item 14782195216.

rs1478219521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4584741 (GRCh38)
17:4488036 (GRCh37)
Canonical SPDI:: NC_000017.11:4584740:G:A
Gene:: SMTNL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.4584741G>A, NC_000017.10:g.4488036G>A, NM_001114974.2:c.136G>A, NM_001114974.1:c.136G>A, NM_001375361.1:c.136G>A, NP_001108446.1:p.Val46Met, NP_001362290.1:p.Val46Met

Select item 14694086857.

rs1469408685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4597261 (GRCh38)
17:4500556 (GRCh37)
Canonical SPDI:: NC_000017.11:4597260:C:G
Gene:: SMTNL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4597261C>G, NC_000017.10:g.4500556C>G, NM_198501.3:c.765C>G, NM_198501.2:c.765C>G, NM_001114974.2:c.1197C>G, NM_001114974.1:c.1197C>G, NM_001375361.1:c.954C>G, NP_940903.2:p.Asp255Glu, NP_001108446.1:p.Asp399Glu, NP_001362290.1:p.Asp318Glu

Select item 14677083888.

rs1467708388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4584723 (GRCh38)
17:4488018 (GRCh37)
Canonical SPDI:: NC_000017.11:4584722:C:T
Gene:: SMTNL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.4584723C>T, NC_000017.10:g.4488018C>T, NM_001114974.2:c.118C>T, NM_001114974.1:c.118C>T, NM_001375361.1:c.118C>T, NP_001108446.1:p.Arg40Cys, NP_001362290.1:p.Arg40Cys

Select item 14660967899.

rs1466096789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4592947 (GRCh38)
17:4496242 (GRCh37)
Canonical SPDI:: NC_000017.11:4592946:C:T
Gene:: SMTNL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4592947C>T, NC_000017.10:g.4496242C>T, NM_198501.3:c.74C>T, NM_198501.2:c.74C>T, NM_001114974.2:c.506C>T, NM_001114974.1:c.506C>T, NP_940903.2:p.Pro25Leu, NP_001108446.1:p.Pro169Leu

Select item 146561064110.

rs1465610641 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGGGGTTCCCGACCGCGC>- [Show Flanks]
Chromosome:: 17:4584922 (GRCh38)
17:4488217 (GRCh37)
Canonical SPDI:: NC_000017.11:4584915:CCGCGCCCGGGGTTCCCGACCGCGC:CCGCGC
Gene:: SMTNL2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCGC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.4584922_4584940del, NC_000017.10:g.4488217_4488235del, NM_001114974.2:c.317_335del, NM_001114974.1:c.317_335del, NM_001375361.1:c.317_335del, NP_001108446.1:p.Pro106fs, NP_001362290.1:p.Pro106fs

Select item 146549798111.

rs1465497981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4592992 (GRCh38)
17:4496287 (GRCh37)
Canonical SPDI:: NC_000017.11:4592991:G:A
Gene:: SMTNL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.4592992G>A, NC_000017.10:g.4496287G>A, NM_198501.3:c.119G>A, NM_198501.2:c.119G>A, NM_001114974.2:c.551G>A, NM_001114974.1:c.551G>A, NP_940903.2:p.Arg40His, NP_001108446.1:p.Arg184His

Select item 146462147912.

rs1464621479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4592396 (GRCh38)
17:4495691 (GRCh37)
Canonical SPDI:: NC_000017.11:4592395:G:A
Gene:: SMTNL2 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4592396G>A, NC_000017.10:g.4495691G>A, NM_198501.3:c.3G>A, NM_198501.2:c.3G>A, NM_001114974.2:c.435G>A, NM_001114974.1:c.435G>A, NM_001375361.1:c.435G>A, NP_940903.2:p.Met1Ile, NP_001108446.1:p.Met145Ile, NP_001362290.1:p.Met145Ile

Select item 146421612313.

rs1464216123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:4593142 (GRCh38)
17:4496437 (GRCh37)
Canonical SPDI:: NC_000017.11:4593141:T:A,NC_000017.11:4593141:T:G
Gene:: SMTNL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4593142T>A, NC_000017.11:g.4593142T>G, NC_000017.10:g.4496437T>A, NC_000017.10:g.4496437T>G, NM_198501.3:c.269T>A, NM_198501.3:c.269T>G, NM_198501.2:c.269T>A, NM_198501.2:c.269T>G, NM_001114974.2:c.701T>A, NM_001114974.2:c.701T>G, NM_001114974.1:c.701T>A, NM_001114974.1:c.701T>G, NP_940903.2:p.Val90Asp, NP_940903.2:p.Val90Gly, NP_001108446.1:p.Val234Asp, NP_001108446.1:p.Val234Gly

Select item 146410208814.

rs1464102088 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:4584625 (GRCh38)
17:4487920 (GRCh37)
Canonical SPDI:: NC_000017.11:4584624:CCC:CC
Gene:: SMTNL2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.4584627del, NC_000017.10:g.4487922del, NM_001114974.2:c.22del, NM_001114974.1:c.22del, NM_001375361.1:c.22del, NP_001108446.1:p.Gln8fs, NP_001362290.1:p.Gln8fs

Select item 146108002115.

rs1461080021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4584815 (GRCh38)
17:4488110 (GRCh37)
Canonical SPDI:: NC_000017.11:4584814:G:T
Gene:: SMTNL2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000105/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4584815G>T, NC_000017.10:g.4488110G>T, NM_001114974.2:c.210G>T, NM_001114974.1:c.210G>T, NM_001375361.1:c.210G>T

Select item 145985901016.

rs1459859010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4584727 (GRCh38)
17:4488022 (GRCh37)
Canonical SPDI:: NC_000017.11:4584726:G:A
Gene:: SMTNL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000017.11:g.4584727G>A, NC_000017.10:g.4488022G>A, NM_001114974.2:c.122G>A, NM_001114974.1:c.122G>A, NM_001375361.1:c.122G>A, NP_001108446.1:p.Gly41Asp, NP_001362290.1:p.Gly41Asp

Select item 145965064117.

rs1459650641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4595266 (GRCh38)
17:4498561 (GRCh37)
Canonical SPDI:: NC_000017.11:4595265:T:C
Gene:: SMTNL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4595266T>C, NC_000017.10:g.4498561T>C, NM_198501.3:c.496T>C, NM_198501.2:c.496T>C, NM_001114974.2:c.928T>C, NM_001114974.1:c.928T>C, NM_001375361.1:c.685T>C, NP_940903.2:p.Ser166Pro, NP_001108446.1:p.Ser310Pro, NP_001362290.1:p.Ser229Pro

Select item 145913024818.

rs1459130248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4592931 (GRCh38)
17:4496226 (GRCh37)
Canonical SPDI:: NC_000017.11:4592930:C:T
Gene:: SMTNL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4592931C>T, NC_000017.10:g.4496226C>T, NM_198501.3:c.58C>T, NM_198501.2:c.58C>T, NM_001114974.2:c.490C>T, NM_001114974.1:c.490C>T, NP_940903.2:p.Pro20Ser, NP_001108446.1:p.Pro164Ser

Select item 145758714919.

rs1457587149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4592429 (GRCh38)
17:4495724 (GRCh37)
Canonical SPDI:: NC_000017.11:4592428:T:C
Gene:: SMTNL2 (Varview)
Functional Consequence:: synonymous_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_000017.11:g.4592429T>C, NC_000017.10:g.4495724T>C, NM_198501.3:c.36T>C, NM_198501.2:c.36T>C, NM_001114974.2:c.468T>C, NM_001114974.1:c.468T>C, NM_001375361.1:c.468T>C

Select item 145612630920.

rs1456126309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4593111 (GRCh38)
17:4496406 (GRCh37)
Canonical SPDI:: NC_000017.11:4593110:C:G
Gene:: SMTNL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000017.11:g.4593111C>G, NC_000017.10:g.4496406C>G, NM_198501.3:c.238C>G, NM_198501.2:c.238C>G, NM_001114974.2:c.670C>G, NM_001114974.1:c.670C>G, NP_940903.2:p.Leu80Val, NP_001108446.1:p.Leu224Val

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