SNP Links for Protein (Select 12056479) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:7853369 (GRCh38)
1:7913429 (GRCh37)
Canonical SPDI:: NC_000001.11:7853368:C:T
Gene:: UTS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.7853369C>T, NC_000001.10:g.7913429C>T, XM_011540537.3:c.63G>A, XM_011540537.2:c.63G>A, XM_011540537.1:c.63G>A, XM_011540538.2:c.-180G>A, XM_011540538.1:c.-180G>A, NM_021995.2:c.63G>A

Select item 140465320914.

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 140089523315.

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 139714249116.

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 138964848817.

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 138309808318.

rs1383098083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:7853325 (GRCh38)
1:7913385 (GRCh37)
Canonical SPDI:: NC_000001.11:7853324:A:G
Gene:: UTS2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.7853325A>G, NC_000001.10:g.7913385A>G, XM_011540537.3:c.107T>C, XM_011540537.2:c.107T>C, XM_011540537.1:c.107T>C, XM_011540538.2:c.-136T>C, XM_011540538.1:c.-136T>C, NM_021995.2:c.107T>C, XP_011538839.1:p.Leu36Ser, NP_068835.1:p.Leu36Ser

Select item 137728500819.

rs1377285008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:7853327 (GRCh38)
1:7913387 (GRCh37)
Canonical SPDI:: NC_000001.11:7853326:A:G
Gene:: UTS2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.7853327A>G, NC_000001.10:g.7913387A>G, XM_011540537.3:c.105T>C, XM_011540537.2:c.105T>C, XM_011540537.1:c.105T>C, XM_011540538.2:c.-138T>C, XM_011540538.1:c.-138T>C, NM_021995.2:c.105T>C

Select item 137698906220.

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

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