SNP Links for Protein (Select 767902005) - SNP

Links from Protein

Items: 1 to 20 of 143

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Select item 14901059091.

rs1490105909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:7850860 (GRCh38)
1:7910921 (GRCh37)
Canonical SPDI:: NC_000001.11:7850860:T:TT
Gene:: UTS2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.7850861dup, NC_000001.10:g.7910921dup, NM_006786.4:c.165dup, NM_006786.3:c.165dup, XM_011540537.3:c.210dup, XM_011540537.2:c.210dup, XM_011540537.1:c.210dup, XM_011540538.2:c.165dup, XM_011540538.1:c.165dup, NM_021995.2:c.210dup, NP_006777.1:p.Leu56fs, XP_011538839.1:p.Leu71fs, XP_011538840.1:p.Leu56fs, NP_068835.1:p.Leu71fs

Select item 14877338152.

rs1487733815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:7847819 (GRCh38)
1:7907879 (GRCh37)
Canonical SPDI:: NC_000001.11:7847818:T:C
Gene:: UTS2 (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_000001.11:g.7847819T>C, NC_000001.10:g.7907879T>C, NM_006786.4:c.322A>G, NM_006786.3:c.322A>G, XM_011540537.3:c.367A>G, XM_011540537.2:c.367A>G, XM_011540537.1:c.367A>G, XM_011540538.2:c.322A>G, XM_011540538.1:c.322A>G, NM_021995.2:c.367A>G, NP_006777.1:p.Lys108Glu, XP_011538839.1:p.Lys123Glu, XP_011538840.1:p.Lys108Glu, NP_068835.1:p.Lys123Glu

Select item 14797766653.

rs1479776665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:7852962 (GRCh38)
1:7913022 (GRCh37)
Canonical SPDI:: NC_000001.11:7852961:G:A
Gene:: UTS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000001.11:g.7852962G>A, NC_000001.10:g.7913022G>A, NM_006786.4:c.42C>T, NM_006786.3:c.42C>T, XM_011540538.2:c.42C>T, XM_011540538.1:c.42C>T

Select item 14693484594.

rs1469348459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:7852923 (GRCh38)
1:7912983 (GRCh37)
Canonical SPDI:: NC_000001.11:7852922:C:T
Gene:: UTS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.7852923C>T, NC_000001.10:g.7912983C>T, NM_006786.4:c.81G>A, NM_006786.3:c.81G>A, XM_011540537.3:c.126G>A, XM_011540537.2:c.126G>A, XM_011540537.1:c.126G>A, XM_011540538.2:c.81G>A, XM_011540538.1:c.81G>A, NM_021995.2:c.126G>A

Select item 14677809365.

rs1467780936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:7852903 (GRCh38)
1:7912963 (GRCh37)
Canonical SPDI:: NC_000001.11:7852902:G:C
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.7852903G>C, NC_000001.10:g.7912963G>C, NM_006786.4:c.101C>G, NM_006786.3:c.101C>G, XM_011540537.3:c.146C>G, XM_011540537.2:c.146C>G, XM_011540537.1:c.146C>G, XM_011540538.2:c.101C>G, XM_011540538.1:c.101C>G, NM_021995.2:c.146C>G, NP_006777.1:p.Ser34Ter, XP_011538839.1:p.Ser49Ter, XP_011538840.1:p.Ser34Ter, NP_068835.1:p.Ser49Ter

Select item 14631987996.

rs1463198799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:7847878 (GRCh38)
1:7907938 (GRCh37)
Canonical SPDI:: NC_000001.11:7847877:T:C
Gene:: UTS2 (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_000001.11:g.7847878T>C, NC_000001.10:g.7907938T>C, NM_006786.4:c.263A>G, NM_006786.3:c.263A>G, XM_011540537.3:c.308A>G, XM_011540537.2:c.308A>G, XM_011540537.1:c.308A>G, XM_011540538.2:c.263A>G, XM_011540538.1:c.263A>G, NM_021995.2:c.308A>G, NP_006777.1:p.Gln88Arg, XP_011538839.1:p.Gln103Arg, XP_011538840.1:p.Gln88Arg, NP_068835.1:p.Gln103Arg

Select item 14337553787.

rs1433755378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:7847770 (GRCh38)
1:7907830 (GRCh37)
Canonical SPDI:: NC_000001.11:7847769:A:G
Gene:: UTS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000106/2 (TOMMO)
G=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.7847770A>G, NC_000001.10:g.7907830A>G, NM_006786.4:c.371T>C, NM_006786.3:c.371T>C, XM_011540537.3:c.416T>C, XM_011540537.2:c.416T>C, XM_011540537.1:c.416T>C, XM_011540538.2:c.371T>C, XM_011540538.1:c.371T>C, NM_021995.2:c.416T>C, NP_006777.1:p.Val124Ala, XP_011538839.1:p.Val139Ala, XP_011538840.1:p.Val124Ala, NP_068835.1:p.Val139Ala

Select item 14142129158.

rs1414212915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:7852916 (GRCh38)
1:7912976 (GRCh37)
Canonical SPDI:: NC_000001.11:7852915:A:C,NC_000001.11:7852915:A:T
Gene:: UTS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.7852916A>C, NC_000001.11:g.7852916A>T, NC_000001.10:g.7912976A>C, NC_000001.10:g.7912976A>T, NM_006786.4:c.88T>G, NM_006786.4:c.88T>A, NM_006786.3:c.88T>G, NM_006786.3:c.88T>A, XM_011540537.3:c.133T>G, XM_011540537.3:c.133T>A, XM_011540537.2:c.133T>G, XM_011540537.2:c.133T>A, XM_011540537.1:c.133T>G, XM_011540537.1:c.133T>A, XM_011540538.2:c.88T>G, XM_011540538.2:c.88T>A, XM_011540538.1:c.88T>G, XM_011540538.1:c.88T>A, NM_021995.2:c.133T>G, NM_021995.2:c.133T>A, NP_006777.1:p.Ser30Ala, NP_006777.1:p.Ser30Thr, XP_011538839.1:p.Ser45Ala, XP_011538839.1:p.Ser45Thr, XP_011538840.1:p.Ser30Ala, XP_011538840.1:p.Ser30Thr, NP_068835.1:p.Ser45Ala, NP_068835.1:p.Ser45Thr

Select item 14072896139.

rs1407289613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:7850883 (GRCh38)
1:7910943 (GRCh37)
Canonical SPDI:: NC_000001.11:7850882:T:C
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.7850883T>C, NC_000001.10:g.7910943T>C, NM_006786.4:c.143A>G, NM_006786.3:c.143A>G, XM_011540537.3:c.188A>G, XM_011540537.2:c.188A>G, XM_011540537.1:c.188A>G, XM_011540538.2:c.143A>G, XM_011540538.1:c.143A>G, NM_021995.2:c.188A>G, NP_006777.1:p.Glu48Gly, XP_011538839.1:p.Glu63Gly, XP_011538840.1:p.Glu48Gly, NP_068835.1:p.Glu63Gly

Select item 140611466310.

rs1406114663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:7847767 (GRCh38)
1:7907827 (GRCh37)
Canonical SPDI:: NC_000001.11:7847766:C:A
Gene:: UTS2 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.7847767C>A, NC_000001.10:g.7907827C>A, NM_006786.4:c.374G>T, NM_006786.3:c.374G>T, XM_011540537.3:c.419G>T, XM_011540537.2:c.419G>T, XM_011540537.1:c.419G>T, XM_011540538.2:c.374G>T, XM_011540538.1:c.374G>T, NM_021995.2:c.419G>T, NP_006777.1:p.Ter125Leu, XP_011538839.1:p.Ter140Leu, XP_011538840.1:p.Ter125Leu, NP_068835.1:p.Ter140Leu

Select item 140465320911.

rs1404653209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:7852902 (GRCh38)
1:7912962 (GRCh37)
Canonical SPDI:: NC_000001.11:7852901:T:G
Gene:: UTS2 (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)
HGVS:: NC_000001.11:g.7852902T>G, NC_000001.10:g.7912962T>G, NM_006786.4:c.102A>C, NM_006786.3:c.102A>C, XM_011540537.3:c.147A>C, XM_011540537.2:c.147A>C, XM_011540537.1:c.147A>C, XM_011540538.2:c.102A>C, XM_011540538.1:c.102A>C, NM_021995.2:c.147A>C

Select item 140089523312.

rs1400895233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:7847833 (GRCh38)
1:7907893 (GRCh37)
Canonical SPDI:: NC_000001.11:7847832:A:G
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.7847833A>G, NC_000001.10:g.7907893A>G, NM_006786.4:c.308T>C, NM_006786.3:c.308T>C, XM_011540537.3:c.353T>C, XM_011540537.2:c.353T>C, XM_011540537.1:c.353T>C, XM_011540538.2:c.308T>C, XM_011540538.1:c.308T>C, NM_021995.2:c.353T>C, NP_006777.1:p.Leu103Ser, XP_011538839.1:p.Leu118Ser, XP_011538840.1:p.Leu103Ser, NP_068835.1:p.Leu118Ser

Select item 139973785813.

rs1399737858 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:7852972 (GRCh38)
1:7913032 (GRCh37)
Canonical SPDI:: NC_000001.11:7852971:AAAA:AAA
Gene:: UTS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.7852975del, NC_000001.10:g.7913035del, NM_006786.4:c.32del, NM_006786.3:c.32del, XM_011540538.2:c.32del, XM_011540538.1:c.32del, NP_006777.1:p.Phe11fs, XP_011538840.1:p.Phe11fs

Select item 139714249114.

rs1397142491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:7849643 (GRCh38)
1:7909703 (GRCh37)
Canonical SPDI:: NC_000001.11:7849642:T:G
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.7849643T>G, NC_000001.10:g.7909703T>G, NM_006786.4:c.255A>C, NM_006786.3:c.255A>C, XM_011540537.3:c.300A>C, XM_011540537.2:c.300A>C, XM_011540537.1:c.300A>C, XM_011540538.2:c.255A>C, XM_011540538.1:c.255A>C, NM_021995.2:c.300A>C, NP_006777.1:p.Arg85Ser, XP_011538839.1:p.Arg100Ser, XP_011538840.1:p.Arg85Ser, NP_068835.1:p.Arg100Ser

Select item 138964848815.

rs1389648488 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:7850835 (GRCh38)
1:7910895 (GRCh37)
Canonical SPDI:: NC_000001.11:7850832:CTCT:CT
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.7850833CT[1], NC_000001.10:g.7910893CT[1], NM_006786.4:c.192_193del, NM_006786.3:c.192_193del, XM_011540537.3:c.237_238del, XM_011540537.2:c.237_238del, XM_011540537.1:c.237_238del, XM_011540538.2:c.192_193del, XM_011540538.1:c.192_193del, NM_021995.2:c.237_238del, NP_006777.1:p.Asp66fs, XP_011538839.1:p.Asp81fs, XP_011538840.1:p.Asp66fs, NP_068835.1:p.Asp81fs

Select item 137698906216.

rs1376989062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:7850865 (GRCh38)
1:7910925 (GRCh37)
Canonical SPDI:: NC_000001.11:7850864:T:C
Gene:: UTS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.7850865T>C, NC_000001.10:g.7910925T>C, NM_006786.4:c.161A>G, NM_006786.3:c.161A>G, XM_011540537.3:c.206A>G, XM_011540537.2:c.206A>G, XM_011540537.1:c.206A>G, XM_011540538.2:c.161A>G, XM_011540538.1:c.161A>G, NM_021995.2:c.206A>G, NP_006777.1:p.Gln54Arg, XP_011538839.1:p.Gln69Arg, XP_011538840.1:p.Gln54Arg, NP_068835.1:p.Gln69Arg

Select item 137167299417.

rs1371672994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:7847785 (GRCh38)
1:7907845 (GRCh37)
Canonical SPDI:: NC_000001.11:7847784:A:T
Gene:: UTS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.7847785A>T, NC_000001.10:g.7907845A>T, NM_006786.4:c.356T>A, NM_006786.3:c.356T>A, XM_011540537.3:c.401T>A, XM_011540537.2:c.401T>A, XM_011540537.1:c.401T>A, XM_011540538.2:c.356T>A, XM_011540538.1:c.356T>A, NM_021995.2:c.401T>A, NP_006777.1:p.Phe119Tyr, XP_011538839.1:p.Phe134Tyr, XP_011538840.1:p.Phe119Tyr, NP_068835.1:p.Phe134Tyr

Select item 136304878318.

rs1363048783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:7850823 (GRCh38)
1:7910883 (GRCh37)
Canonical SPDI:: NC_000001.11:7850822:A:T
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.7850823A>T, NC_000001.10:g.7910883A>T, NM_006786.4:c.203T>A, NM_006786.3:c.203T>A, XM_011540537.3:c.248T>A, XM_011540537.2:c.248T>A, XM_011540537.1:c.248T>A, XM_011540538.2:c.203T>A, XM_011540538.1:c.203T>A, NM_021995.2:c.248T>A, NP_006777.1:p.Leu68His, XP_011538839.1:p.Leu83His, XP_011538840.1:p.Leu68His, NP_068835.1:p.Leu83His

Select item 134792562519.

rs1347925625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:7850835 (GRCh38)
1:7910895 (GRCh37)
Canonical SPDI:: NC_000001.11:7850834:C:G
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.7850835C>G, NC_000001.10:g.7910895C>G, NM_006786.4:c.191G>C, NM_006786.3:c.191G>C, XM_011540537.3:c.236G>C, XM_011540537.2:c.236G>C, XM_011540537.1:c.236G>C, XM_011540538.2:c.191G>C, XM_011540538.1:c.191G>C, NM_021995.2:c.236G>C, NP_006777.1:p.Arg64Thr, XP_011538839.1:p.Arg79Thr, XP_011538840.1:p.Arg64Thr, NP_068835.1:p.Arg79Thr

Select item 134517394720.

rs1345173947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:7852987 (GRCh38)
1:7913047 (GRCh37)
Canonical SPDI:: NC_000001.11:7852986:G:A
Gene:: UTS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000001.11:g.7852987G>A, NC_000001.10:g.7913047G>A, NM_006786.4:c.17C>T, NM_006786.3:c.17C>T, XM_011540538.2:c.17C>T, XM_011540538.1:c.17C>T, NP_006777.1:p.Ser6Phe, XP_011538840.1:p.Ser6Phe

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