SNP Links for Protein (Select 209693464) - SNP

Links from Protein

Items: 1 to 20 of 156

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Select item 14892691521.

rs1489269152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128378080 (GRCh38)
9:131140359 (GRCh37)
Canonical SPDI:: NC_000009.12:128378079:T:C
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.128378080T>C, NC_000009.11:g.131140359T>C, NM_030914.4:c.80T>C, NM_030914.3:c.80T>C, NM_001135947.2:c.80T>C, NR_049743.2:n.128T>C, NR_049743.1:n.183T>C, NM_001265582.1:c.80T>C, NP_112176.1:p.Val27Ala, NP_001129419.1:p.Val27Ala, NP_001252511.1:p.Val27Ala

Select item 14742049262.

rs1474204926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128371392 (GRCh38)
9:131133671 (GRCh37)
Canonical SPDI:: NC_000009.12:128371391:C:T
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128371392C>T, NC_000009.11:g.131133671C>T, NM_030914.4:c.12C>T, NM_030914.3:c.12C>T, NM_001135947.2:c.12C>T, NR_049743.2:n.19C>T, NR_049743.1:n.74C>T, NM_001265582.1:c.12C>T

Select item 14729605763.

rs1472960576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128389412 (GRCh38)
9:131151691 (GRCh37)
Canonical SPDI:: NC_000009.12:128389411:C:T
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.128389412C>T, NC_000009.11:g.131151691C>T, NM_001135947.2:c.340C>T, NM_001265582.1:c.*1511C>T, NP_001129419.1:p.Pro114Ser

Select item 14695904804.

rs1469590480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128371407 (GRCh38)
9:131133686 (GRCh37)
Canonical SPDI:: NC_000009.12:128371406:G:A
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128371407G>A, NC_000009.11:g.131133686G>A, NM_030914.4:c.27G>A, NM_030914.3:c.27G>A, NM_001135947.2:c.27G>A, NR_049743.2:n.34G>A, NR_049743.1:n.89G>A, NM_001265582.1:c.27G>A

Select item 14688824575.

rs1468882457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:128371415 (GRCh38)
9:131133694 (GRCh37)
Canonical SPDI:: NC_000009.12:128371414:G:C
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_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_000009.12:g.128371415G>C, NC_000009.11:g.131133694G>C, NM_030914.4:c.35G>C, NM_030914.3:c.35G>C, NM_001135947.2:c.35G>C, NR_049743.2:n.42G>C, NR_049743.1:n.97G>C, NM_001265582.1:c.35G>C, NP_112176.1:p.Gly12Ala, NP_001129419.1:p.Gly12Ala, NP_001252511.1:p.Gly12Ala

Select item 14660366376.

rs1466036637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:128389511 (GRCh38)
9:131151790 (GRCh37)
Canonical SPDI:: NC_000009.12:128389510:T:A
Gene:: URM1 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128389511T>A, NC_000009.11:g.131151790T>A, NM_001135947.2:c.439T>A, NM_001265582.1:c.*1610T>A, NP_001129419.1:p.Ter147Arg

Select item 14607673327.

rs1460767332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128389401 (GRCh38)
9:131151680 (GRCh37)
Canonical SPDI:: NC_000009.12:128389400:G:A
Gene:: URM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.00021/4 (TOMMO)
HGVS:: NC_000009.12:g.128389401G>A, NC_000009.11:g.131151680G>A, NM_001135947.2:c.329G>A, NM_001265582.1:c.*1500G>A, NP_001129419.1:p.Trp110Ter

Select item 14575951198.

rs1457595119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128387824 (GRCh38)
9:131150103 (GRCh37)
Canonical SPDI:: NC_000009.12:128387823:C:T
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.128387824C>T, NC_000009.11:g.131150103C>T, NM_030914.4:c.115C>T, NM_030914.3:c.115C>T, NM_001135947.2:c.115C>T, NR_049743.2:n.163C>T, NR_049743.1:n.218C>T, NM_001265582.1:c.115C>T, NP_112176.1:p.Arg39Trp, NP_001129419.1:p.Arg39Trp, NP_001252511.1:p.Arg39Trp

Select item 14506226679.

rs1450622667 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCCC>- [Show Flanks]
Chromosome:: 9:128389328 (GRCh38)
9:131151607 (GRCh37)
Canonical SPDI:: NC_000009.12:128389326:CATCCC:C
Gene:: URM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128389328_128389332del, NC_000009.11:g.131151607_131151611del, NM_001135947.2:c.256_260del, NM_001265582.1:c.*1427_*1431del, NP_001129419.1:p.Ile86fs

Select item 144974492610.

rs1449744926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128389292 (GRCh38)
9:131151571 (GRCh37)
Canonical SPDI:: NC_000009.12:128389291:G:T
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128389292G>T, NC_000009.11:g.131151571G>T, NM_030914.4:c.220G>T, NM_030914.3:c.220G>T, NM_001135947.2:c.220G>T, NR_049743.2:n.268G>T, NR_049743.1:n.323G>T, NM_001265582.1:c.*1391G>T, NP_112176.1:p.Ala74Ser, NP_001129419.1:p.Ala74Ser

Select item 140941842211.

rs1409418422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:128389435 (GRCh38)
9:131151714 (GRCh37)
Canonical SPDI:: NC_000009.12:128389434:A:G
Gene:: URM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.128389435A>G, NC_000009.11:g.131151714A>G, NM_001135947.2:c.363A>G, NM_001265582.1:c.*1534A>G

Select item 140553653212.

rs1405536532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128389353 (GRCh38)
9:131151632 (GRCh37)
Canonical SPDI:: NC_000009.12:128389352:C:T
Gene:: URM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128389353C>T, NC_000009.11:g.131151632C>T, NM_001135947.2:c.281C>T, NM_001265582.1:c.*1452C>T, NP_001129419.1:p.Ala94Val

Select item 140501669613.

rs1405016696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:128371409 (GRCh38)
9:131133688 (GRCh37)
Canonical SPDI:: NC_000009.12:128371408:A:C,NC_000009.12:128371408:A:G
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128371409A>C, NC_000009.12:g.128371409A>G, NC_000009.11:g.131133688A>C, NC_000009.11:g.131133688A>G, NM_030914.4:c.29A>C, NM_030914.4:c.29A>G, NM_030914.3:c.29A>C, NM_030914.3:c.29A>G, NM_001135947.2:c.29A>C, NM_001135947.2:c.29A>G, NR_049743.2:n.36A>C, NR_049743.2:n.36A>G, NR_049743.1:n.91A>C, NR_049743.1:n.91A>G, NM_001265582.1:c.29A>C, NM_001265582.1:c.29A>G, NP_112176.1:p.Glu10Ala, NP_112176.1:p.Glu10Gly, NP_001129419.1:p.Glu10Ala, NP_001129419.1:p.Glu10Gly, NP_001252511.1:p.Glu10Ala, NP_001252511.1:p.Glu10Gly

Select item 140476863814.

rs1404768638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:128389499 (GRCh38)
9:131151778 (GRCh37)
Canonical SPDI:: NC_000009.12:128389498:A:C,NC_000009.12:128389498:A:G
Gene:: URM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.128389499A>C, NC_000009.12:g.128389499A>G, NC_000009.11:g.131151778A>C, NC_000009.11:g.131151778A>G, NM_001135947.2:c.427A>C, NM_001135947.2:c.427A>G, NM_001265582.1:c.*1598A>C, NM_001265582.1:c.*1598A>G, NP_001129419.1:p.Thr143Pro, NP_001129419.1:p.Thr143Ala

Select item 140382714315.

rs1403827143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128387832 (GRCh38)
9:131150111 (GRCh37)
Canonical SPDI:: NC_000009.12:128387831:G:A
Gene:: URM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.128387832G>A, NC_000009.11:g.131150111G>A, NM_030914.4:c.123G>A, NM_030914.3:c.123G>A, NM_001135947.2:c.123G>A, NR_049743.2:n.171G>A, NR_049743.1:n.226G>A, NM_001265582.1:c.123G>A

Select item 139704914416.

rs1397049144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128371410 (GRCh38)
9:131133689 (GRCh37)
Canonical SPDI:: NC_000009.12:128371409:G:A
Gene:: URM1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128371410G>A, NC_000009.11:g.131133689G>A, NM_030914.4:c.30G>A, NM_030914.3:c.30G>A, NM_001135947.2:c.30G>A, NR_049743.2:n.37G>A, NR_049743.1:n.92G>A, NM_001265582.1:c.30G>A

Select item 139589804017.

rs1395898040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:128389427 (GRCh38)
9:131151706 (GRCh37)
Canonical SPDI:: NC_000009.12:128389426:A:G
Gene:: URM1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128389427A>G, NC_000009.11:g.131151706A>G, NM_001135947.2:c.355A>G, NM_001265582.1:c.*1526A>G, NP_001129419.1:p.Ser119Gly

Select item 138936084818.

rs1389360848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:128387865 (GRCh38)
9:131150144 (GRCh37)
Canonical SPDI:: NC_000009.12:128387864:G:A,NC_000009.12:128387864:G:C
Gene:: URM1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128387865G>A, NC_000009.12:g.128387865G>C, NC_000009.11:g.131150144G>A, NC_000009.11:g.131150144G>C, NM_030914.4:c.156G>A, NM_030914.4:c.156G>C, NM_030914.3:c.156G>A, NM_030914.3:c.156G>C, NM_001135947.2:c.156G>A, NM_001135947.2:c.156G>C, NR_049743.2:n.204G>A, NR_049743.2:n.204G>C, NR_049743.1:n.259G>A, NR_049743.1:n.259G>C, NM_001265582.1:c.156G>A, NM_001265582.1:c.156G>C, NP_112176.1:p.Glu52Asp, NP_001129419.1:p.Glu52Asp, NP_001252511.1:p.Glu52Asp

Select item 138472829819.

rs1384728298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128378106 (GRCh38)
9:131140385 (GRCh37)
Canonical SPDI:: NC_000009.12:128378105:T:C
Gene:: URM1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128378106T>C, NC_000009.11:g.131140385T>C, NM_030914.4:c.106T>C, NM_030914.3:c.106T>C, NM_001135947.2:c.106T>C, NR_049743.2:n.154T>C, NR_049743.1:n.209T>C, NM_001265582.1:c.106T>C, NP_112176.1:p.Trp36Arg, NP_001129419.1:p.Trp36Arg, NP_001252511.1:p.Trp36Arg

Select item 136189031420.

rs1361890314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 9:128389290 (GRCh38)
9:131151569 (GRCh37)
Canonical SPDI:: NC_000009.12:128389289:A:C,NC_000009.12:128389289:A:T
Gene:: URM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.128389290A>C, NC_000009.12:g.128389290A>T, NC_000009.11:g.131151569A>C, NC_000009.11:g.131151569A>T, NM_030914.4:c.218A>C, NM_030914.4:c.218A>T, NM_030914.3:c.218A>C, NM_030914.3:c.218A>T, NM_001135947.2:c.218A>C, NM_001135947.2:c.218A>T, NR_049743.2:n.266A>C, NR_049743.2:n.266A>T, NR_049743.1:n.321A>C, NR_049743.1:n.321A>T, NM_001265582.1:c.*1389A>C, NM_001265582.1:c.*1389A>T, NP_112176.1:p.Asp73Ala, NP_112176.1:p.Asp73Val, NP_001129419.1:p.Asp73Ala, NP_001129419.1:p.Asp73Val

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