SNP Links for Protein (Select 4507803) - SNP

Links from Protein

Items: 1 to 20 of 169

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Select item 14907674551.

rs1490767455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27307608 (GRCh38)
2:27530476 (GRCh37)
Canonical SPDI:: NC_000002.12:27307607:C:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.27307608C>T, NC_000002.11:g.27530476C>T, NG_008075.2:g.20489G>A, NG_008075.1:g.19956G>A, NG_033055.2:g.5837G>A, NG_033055.1:g.5655G>A, NM_003353.4:c.288G>A, NM_003353.3:c.288G>A, NM_003353.2:c.288G>A

Select item 14899645862.

rs1489964586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27307807 (GRCh38)
2:27530675 (GRCh37)
Canonical SPDI:: NC_000002.12:27307806:G:A
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27307807G>A, NC_000002.11:g.27530675G>A, NG_008075.2:g.20290C>T, NG_008075.1:g.19757C>T, NG_033055.2:g.5638C>T, NG_033055.1:g.5456C>T, NM_003353.4:c.89C>T, NM_003353.3:c.89C>T, NM_003353.2:c.89C>T, NP_003344.1:p.Ala30Val

Select item 14899493393.

rs1489949339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27307874 (GRCh38)
2:27530742 (GRCh37)
Canonical SPDI:: NC_000002.12:27307873:C:A,NC_000002.12:27307873:C:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.27307874C>A, NC_000002.12:g.27307874C>T, NC_000002.11:g.27530742C>A, NC_000002.11:g.27530742C>T, NG_008075.2:g.20223G>T, NG_008075.2:g.20223G>A, NG_008075.1:g.19690G>T, NG_008075.1:g.19690G>A, NG_033055.2:g.5571G>T, NG_033055.2:g.5571G>A, NG_033055.1:g.5389G>T, NG_033055.1:g.5389G>A, NM_003353.4:c.22G>T, NM_003353.4:c.22G>A, NM_003353.3:c.22G>T, NM_003353.3:c.22G>A, NM_003353.2:c.22G>T, NM_003353.2:c.22G>A, NP_003344.1:p.Ala8Ser, NP_003344.1:p.Ala8Thr

Select item 14813031184.

rs1481303118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27307549 (GRCh38)
2:27530417 (GRCh37)
Canonical SPDI:: NC_000002.12:27307548:C:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.27307549C>T, NC_000002.11:g.27530417C>T, NG_008075.2:g.20548G>A, NG_008075.1:g.20015G>A, NG_033055.2:g.5896G>A, NG_033055.1:g.5714G>A, NM_003353.4:c.347G>A, NM_003353.3:c.347G>A, NM_003353.2:c.347G>A, NP_003344.1:p.Arg116His

Select item 14681119175.

rs1468111917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27307550 (GRCh38)
2:27530418 (GRCh37)
Canonical SPDI:: NC_000002.12:27307549:G:C
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_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.27307550G>C, NC_000002.11:g.27530418G>C, NG_008075.2:g.20547C>G, NG_008075.1:g.20014C>G, NG_033055.2:g.5895C>G, NG_033055.1:g.5713C>G, NM_003353.4:c.346C>G, NM_003353.3:c.346C>G, NM_003353.2:c.346C>G, NP_003344.1:p.Arg116Gly

Select item 14634726776.

rs1463472677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:27307795 (GRCh38)
2:27530663 (GRCh37)
Canonical SPDI:: NC_000002.12:27307794:T:A,NC_000002.12:27307794:T:C
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27307795T>A, NC_000002.12:g.27307795T>C, NC_000002.11:g.27530663T>A, NC_000002.11:g.27530663T>C, NG_008075.2:g.20302A>T, NG_008075.2:g.20302A>G, NG_008075.1:g.19769A>T, NG_008075.1:g.19769A>G, NG_033055.2:g.5650A>T, NG_033055.2:g.5650A>G, NG_033055.1:g.5468A>T, NG_033055.1:g.5468A>G, NM_003353.4:c.101A>T, NM_003353.4:c.101A>G, NM_003353.3:c.101A>T, NM_003353.3:c.101A>G, NM_003353.2:c.101A>T, NM_003353.2:c.101A>G, NP_003344.1:p.Gln34Leu, NP_003344.1:p.Gln34Arg

Select item 14614801707.

rs1461480170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27307731 (GRCh38)
2:27530599 (GRCh37)
Canonical SPDI:: NC_000002.12:27307730:G:A
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27307731G>A, NC_000002.11:g.27530599G>A, NG_008075.2:g.20366C>T, NG_008075.1:g.19833C>T, NG_033055.2:g.5714C>T, NG_033055.1:g.5532C>T, NM_003353.4:c.165C>T, NM_003353.3:c.165C>T, NM_003353.2:c.165C>T

Select item 14505813018.

rs1450581301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27307658 (GRCh38)
2:27530526 (GRCh37)
Canonical SPDI:: NC_000002.12:27307657:G:C
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27307658G>C, NC_000002.11:g.27530526G>C, NG_008075.2:g.20439C>G, NG_008075.1:g.19906C>G, NG_033055.2:g.5787C>G, NG_033055.1:g.5605C>G, NM_003353.4:c.238C>G, NM_003353.3:c.238C>G, NM_003353.2:c.238C>G, NP_003344.1:p.Pro80Ala

Select item 14484088709.

rs1448408870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27307796 (GRCh38)
2:27530664 (GRCh37)
Canonical SPDI:: NC_000002.12:27307795:G:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27307796G>T, NC_000002.11:g.27530664G>T, NG_008075.2:g.20301C>A, NG_008075.1:g.19768C>A, NG_033055.2:g.5649C>A, NG_033055.1:g.5467C>A, NM_003353.4:c.100C>A, NM_003353.3:c.100C>A, NM_003353.2:c.100C>A, NP_003344.1:p.Gln34Lys

Select item 144507634310.

rs1445076343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27307647 (GRCh38)
2:27530515 (GRCh37)
Canonical SPDI:: NC_000002.12:27307646:G:A
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.27307647G>A, NC_000002.11:g.27530515G>A, NG_008075.2:g.20450C>T, NG_008075.1:g.19917C>T, NG_033055.2:g.5798C>T, NG_033055.1:g.5616C>T, NM_003353.4:c.249C>T, NM_003353.3:c.249C>T, NM_003353.2:c.249C>T

Select item 144321691311.

rs1443216913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27307875 (GRCh38)
2:27530743 (GRCh37)
Canonical SPDI:: NC_000002.12:27307874:T:C
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.27307875T>C, NC_000002.11:g.27530743T>C, NG_008075.2:g.20222A>G, NG_008075.1:g.19689A>G, NG_033055.2:g.5570A>G, NG_033055.1:g.5388A>G, NM_003353.4:c.21A>G, NM_003353.3:c.21A>G, NM_003353.2:c.21A>G

Select item 143467350512.

rs1434673505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27307756 (GRCh38)
2:27530624 (GRCh37)
Canonical SPDI:: NC_000002.12:27307755:T:C
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_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_000002.12:g.27307756T>C, NC_000002.11:g.27530624T>C, NG_008075.2:g.20341A>G, NG_008075.1:g.19808A>G, NG_033055.2:g.5689A>G, NG_033055.1:g.5507A>G, NM_003353.4:c.140A>G, NM_003353.3:c.140A>G, NM_003353.2:c.140A>G, NP_003344.1:p.Gln47Arg

Select item 143432287013.

rs1434322870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27307714 (GRCh38)
2:27530582 (GRCh37)
Canonical SPDI:: NC_000002.12:27307713:C:A,NC_000002.12:27307713:C:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_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_000002.12:g.27307714C>A, NC_000002.12:g.27307714C>T, NC_000002.11:g.27530582C>A, NC_000002.11:g.27530582C>T, NG_008075.2:g.20383G>T, NG_008075.2:g.20383G>A, NG_008075.1:g.19850G>T, NG_008075.1:g.19850G>A, NG_033055.2:g.5731G>T, NG_033055.2:g.5731G>A, NG_033055.1:g.5549G>T, NG_033055.1:g.5549G>A, NM_003353.4:c.182G>T, NM_003353.4:c.182G>A, NM_003353.3:c.182G>T, NM_003353.3:c.182G>A, NM_003353.2:c.182G>T, NM_003353.2:c.182G>A, NP_003344.1:p.Arg61Leu, NP_003344.1:p.Arg61His

Select item 143261322314.

rs1432613223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:27307770 (GRCh38)
2:27530638 (GRCh37)
Canonical SPDI:: NC_000002.12:27307769:G:A,NC_000002.12:27307769:G:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.27307770G>A, NC_000002.12:g.27307770G>T, NC_000002.11:g.27530638G>A, NC_000002.11:g.27530638G>T, NG_008075.2:g.20327C>T, NG_008075.2:g.20327C>A, NG_008075.1:g.19794C>T, NG_008075.1:g.19794C>A, NG_033055.2:g.5675C>T, NG_033055.2:g.5675C>A, NG_033055.1:g.5493C>T, NG_033055.1:g.5493C>A, NM_003353.4:c.126C>T, NM_003353.4:c.126C>A, NM_003353.3:c.126C>T, NM_003353.3:c.126C>A, NM_003353.2:c.126C>T, NM_003353.2:c.126C>A

Select item 143065717215.

rs1430657172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:27307817 (GRCh38)
2:27530685 (GRCh37)
Canonical SPDI:: NC_000002.12:27307816:T:A,NC_000002.12:27307816:T:G
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_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.27307817T>A, NC_000002.12:g.27307817T>G, NC_000002.11:g.27530685T>A, NC_000002.11:g.27530685T>G, NG_008075.2:g.20280A>T, NG_008075.2:g.20280A>C, NG_008075.1:g.19747A>T, NG_008075.1:g.19747A>C, NG_033055.2:g.5628A>T, NG_033055.2:g.5628A>C, NG_033055.1:g.5446A>T, NG_033055.1:g.5446A>C, NM_003353.4:c.79A>T, NM_003353.4:c.79A>C, NM_003353.3:c.79A>T, NM_003353.3:c.79A>C, NM_003353.2:c.79A>T, NM_003353.2:c.79A>C, NP_003344.1:p.Ser27Cys, NP_003344.1:p.Ser27Arg

Select item 142518293316.

rs1425182933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCGCGGCCAGCAGCGCTGC>- [Show Flanks]
Chromosome:: 2:27307858 (GRCh38)
2:27530726 (GRCh37)
Canonical SPDI:: NC_000002.12:27307855:GCAGCGCGGCCAGCAGCGCTGC:GC
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: downstream_transcript_variant,frameshift_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.27307858_27307877del, NC_000002.11:g.27530726_27530745del, NG_008075.2:g.20222_20241del, NG_008075.1:g.19689_19708del, NG_033055.2:g.5570_5589del, NG_033055.1:g.5388_5407del, NM_003353.4:c.21_40del, NM_003353.3:c.21_40del, NM_003353.2:c.21_40del, NP_003344.1:p.Leu9fs

Select item 142274498317.

rs1422744983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27307622 (GRCh38)
2:27530490 (GRCh37)
Canonical SPDI:: NC_000002.12:27307621:T:C
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.27307622T>C, NC_000002.11:g.27530490T>C, NG_008075.2:g.20475A>G, NG_008075.1:g.19942A>G, NG_033055.2:g.5823A>G, NG_033055.1:g.5641A>G, NM_003353.4:c.274A>G, NM_003353.3:c.274A>G, NM_003353.2:c.274A>G, NP_003344.1:p.Thr92Ala

Select item 141975841018.

rs1419758410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27307732 (GRCh38)
2:27530600 (GRCh37)
Canonical SPDI:: NC_000002.12:27307731:A:G
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_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_000002.12:g.27307732A>G, NC_000002.11:g.27530600A>G, NG_008075.2:g.20365T>C, NG_008075.1:g.19832T>C, NG_033055.2:g.5713T>C, NG_033055.1:g.5531T>C, NM_003353.4:c.164T>C, NM_003353.3:c.164T>C, NM_003353.2:c.164T>C, NP_003344.1:p.Leu55Pro

Select item 141673931119.

rs1416739311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27307570 (GRCh38)
2:27530438 (GRCh37)
Canonical SPDI:: NC_000002.12:27307569:C:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.27307570C>T, NC_000002.11:g.27530438C>T, NG_008075.2:g.20527G>A, NG_008075.1:g.19994G>A, NG_033055.2:g.5875G>A, NG_033055.1:g.5693G>A, NM_003353.4:c.326G>A, NM_003353.3:c.326G>A, NM_003353.2:c.326G>A, NP_003344.1:p.Arg109Gln

Select item 141394318320.

rs1413943183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27307773 (GRCh38)
2:27530641 (GRCh37)
Canonical SPDI:: NC_000002.12:27307772:G:T
Gene:: UCN (Varview), TRIM54 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27307773G>T, NC_000002.11:g.27530641G>T, NG_008075.2:g.20324C>A, NG_008075.1:g.19791C>A, NG_033055.2:g.5672C>A, NG_033055.1:g.5490C>A, NM_003353.4:c.123C>A, NM_003353.3:c.123C>A, NM_003353.2:c.123C>A, NP_003344.1:p.Ser41Arg

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