SNP Links for Nucleotide (Select 767960691) - SNP - NCBI

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Links from Nucleotide

Items: 1 to 20 of 983

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Select item 14909388251.

rs1490938825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:35010119 (GRCh38)
10:35299047 (GRCh37)
Canonical SPDI:: NC_000010.11:35010118:T:C
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.35010119T>C, NC_000010.10:g.35299047T>C, NM_003591.4:c.*192A>G, NM_003591.3:c.*192A>G, XM_011519745.2:c.*192A>G, XM_011519745.1:c.*192A>G, NM_001324376.2:c.*192A>G, NM_001324376.1:c.*192A>G, XM_011519747.2:c.*192A>G, XM_011519747.1:c.*192A>G, NM_001198777.2:c.*192A>G, NM_001198777.1:c.*192A>G, NM_001198778.2:c.*192A>G, NM_001198778.1:c.*192A>G, NM_001324375.2:c.*192A>G, NM_001324375.1:c.*192A>G, XM_047425852.1:c.*192A>G, XM_011519743.1:c.*192A>G, NM_001198779.1:c.*192A>G, XM_011519744.1:c.*192A>G

Select item 14901241792.

rs1490124179 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATAT>- [Show Flanks]
Chromosome:: 10:35009202 (GRCh38)
10:35298130 (GRCh37)
Canonical SPDI:: NC_000010.11:35009186:TATATATATATATATTATATATATATATAT:TATATATATATATAT
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATTATATATATATATAT=0.000071/1 (ALFA)
-=0.000022/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.35009187TATATATATATATAT[1], NC_000010.10:g.35298115TATATATATATATAT[1], NM_003591.4:c.*1095ATATATATATATATA[1], NM_003591.3:c.*1095ATATATATATATATA[1], XM_011519745.2:c.*1095ATATATATATATATA[1], XM_011519745.1:c.*1095ATATATATATATATA[1], NM_001324376.2:c.*1095ATATATATATATATA[1], NM_001324376.1:c.*1095ATATATATATATATA[1], XM_011519747.2:c.*1095ATATATATATATATA[1], XM_011519747.1:c.*1095ATATATATATATATA[1], NM_001198777.2:c.*1095ATATATATATATATA[1], NM_001198777.1:c.*1095ATATATATATATATA[1], NM_001198778.2:c.*1095ATATATATATATATA[1], NM_001198778.1:c.*1095ATATATATATATATA[1], NM_001324375.2:c.*1095ATATATATATATATA[1], NM_001324375.1:c.*1095ATATATATATATATA[1], XM_047425852.1:c.*1095ATATATATATATATA[1], XM_011519743.1:c.*1095ATATATATATATATA[1], NM_001198779.1:c.*1095ATATATATATATATA[1], XM_011519744.1:c.*1095ATATATATATATATA[1]

Select item 14893151433.

rs1489315143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:35054442 (GRCh38)
10:35343370 (GRCh37)
Canonical SPDI:: NC_000010.11:35054441:T:C
Gene:: CUL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000010.11:g.35054442T>C, NC_000010.10:g.35343370T>C, NM_003591.4:c.415A>G, NM_003591.3:c.415A>G, XM_011519745.2:c.604A>G, XM_011519745.1:c.604A>G, NM_001324376.2:c.22A>G, NM_001324376.1:c.22A>G, XM_011519747.2:c.415A>G, XM_011519747.1:c.415A>G, NM_001198777.2:c.415A>G, NM_001198777.1:c.415A>G, NM_001198778.2:c.472A>G, NM_001198778.1:c.472A>G, XM_047425852.1:c.604A>G, XM_011519743.1:c.604A>G, NM_001198779.1:c.454A>G, XM_011519744.1:c.604A>G, NP_003582.2:p.Ile139Val, XP_011518047.1:p.Ile202Val, NP_001311305.1:p.Ile8Val, XP_011518049.1:p.Ile139Val, NP_001185706.1:p.Ile139Val, NP_001185707.1:p.Ile158Val, XP_047281808.1:p.Ile202Val, XP_011518045.1:p.Ile202Val, NP_001185708.1:p.Ile152Val, XP_011518046.1:p.Ile202Val

Select item 14887877484.

rs1488787748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:35039017 (GRCh38)
10:35327945 (GRCh37)
Canonical SPDI:: NC_000010.11:35039016:A:C
Gene:: CUL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.35039017A>C, NC_000010.10:g.35327945A>C, NM_003591.4:c.780T>G, NM_003591.3:c.780T>G, XM_011519745.2:c.969T>G, XM_011519745.1:c.969T>G, NM_001324376.2:c.387T>G, NM_001324376.1:c.387T>G, XM_011519747.2:c.780T>G, XM_011519747.1:c.780T>G, NM_001198777.2:c.780T>G, NM_001198777.1:c.780T>G, NM_001198778.2:c.837T>G, NM_001198778.1:c.837T>G, NM_001324375.2:c.591T>G, NM_001324375.1:c.591T>G, XM_047425852.1:c.969T>G, XM_011519743.1:c.969T>G, NM_001198779.1:c.819T>G, XM_011519744.1:c.969T>G

Select item 14882681205.

rs1488268120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:35010304 (GRCh38)
10:35299232 (GRCh37)
Canonical SPDI:: NC_000010.11:35010303:A:G
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000010.11:g.35010304A>G, NC_000010.10:g.35299232A>G, NM_003591.4:c.*7T>C, NM_003591.3:c.*7T>C, XM_011519745.2:c.*7T>C, XM_011519745.1:c.*7T>C, NM_001324376.2:c.*7T>C, NM_001324376.1:c.*7T>C, XM_011519747.2:c.*7T>C, XM_011519747.1:c.*7T>C, NM_001198777.2:c.*7T>C, NM_001198777.1:c.*7T>C, NM_001198778.2:c.*7T>C, NM_001198778.1:c.*7T>C, NM_001324375.2:c.*7T>C, NM_001324375.1:c.*7T>C, XM_047425852.1:c.*7T>C, XM_011519743.1:c.*7T>C, NM_001198779.1:c.*7T>C, XM_011519744.1:c.*7T>C

Select item 14871804646.

rs1487180464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:35029572 (GRCh38)
10:35318500 (GRCh37)
Canonical SPDI:: NC_000010.11:35029571:A:G
Gene:: CUL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.35029572A>G, NC_000010.10:g.35318500A>G, NM_003591.4:c.1455T>C, NM_003591.3:c.1455T>C, XM_011519745.2:c.1644T>C, XM_011519745.1:c.1644T>C, NM_001324376.2:c.1062T>C, NM_001324376.1:c.1062T>C, XM_011519747.2:c.1455T>C, XM_011519747.1:c.1455T>C, NM_001198777.2:c.1455T>C, NM_001198777.1:c.1455T>C, NM_001198778.2:c.1512T>C, NM_001198778.1:c.1512T>C, NM_001324375.2:c.1266T>C, NM_001324375.1:c.1266T>C, XM_047425852.1:c.1644T>C, XM_011519743.1:c.1644T>C, NM_001198779.1:c.1494T>C, XM_011519744.1:c.1644T>C

Select item 14862348387.

rs1486234838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:35044621 (GRCh38)
10:35333549 (GRCh37)
Canonical SPDI:: NC_000010.11:35044620:T:C
Gene:: CUL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.35044621T>C, NC_000010.10:g.35333549T>C, NM_003591.4:c.659A>G, NM_003591.3:c.659A>G, XM_011519745.2:c.848A>G, XM_011519745.1:c.848A>G, NM_001324376.2:c.266A>G, NM_001324376.1:c.266A>G, XM_011519747.2:c.659A>G, XM_011519747.1:c.659A>G, NM_001198777.2:c.659A>G, NM_001198777.1:c.659A>G, NM_001198778.2:c.716A>G, NM_001198778.1:c.716A>G, NM_001324375.2:c.470A>G, NM_001324375.1:c.470A>G, XM_047425852.1:c.848A>G, XM_011519743.1:c.848A>G, NM_001198779.1:c.698A>G, XM_011519744.1:c.848A>G, NP_003582.2:p.Lys220Arg, XP_011518047.1:p.Lys283Arg, NP_001311305.1:p.Lys89Arg, XP_011518049.1:p.Lys220Arg, NP_001185706.1:p.Lys220Arg, NP_001185707.1:p.Lys239Arg, NP_001311304.1:p.Lys157Arg, XP_047281808.1:p.Lys283Arg, XP_011518045.1:p.Lys283Arg, NP_001185708.1:p.Lys233Arg, XP_011518046.1:p.Lys283Arg

Select item 14843584008.

rs1484358400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:35009420 (GRCh38)
10:35298348 (GRCh37)
Canonical SPDI:: NC_000010.11:35009419:G:T
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.35009420G>T, NC_000010.10:g.35298348G>T, NM_003591.4:c.*891C>A, NM_003591.3:c.*891C>A, XM_011519745.2:c.*891C>A, XM_011519745.1:c.*891C>A, NM_001324376.2:c.*891C>A, NM_001324376.1:c.*891C>A, XM_011519747.2:c.*891C>A, XM_011519747.1:c.*891C>A, NM_001198777.2:c.*891C>A, NM_001198777.1:c.*891C>A, NM_001198778.2:c.*891C>A, NM_001198778.1:c.*891C>A, NM_001324375.2:c.*891C>A, NM_001324375.1:c.*891C>A, XM_047425852.1:c.*891C>A, XM_011519743.1:c.*891C>A, NM_001198779.1:c.*891C>A, XM_011519744.1:c.*891C>A

Select item 14842542809.

rs1484254280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:35008925 (GRCh38)
10:35297853 (GRCh37)
Canonical SPDI:: NC_000010.11:35008924:C:G
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.35008925C>G, NC_000010.10:g.35297853C>G, NM_003591.4:c.*1386G>C, NM_003591.3:c.*1386G>C, XM_011519745.2:c.*1386G>C, XM_011519745.1:c.*1386G>C, NM_001324376.2:c.*1386G>C, NM_001324376.1:c.*1386G>C, XM_011519747.2:c.*1386G>C, XM_011519747.1:c.*1386G>C, NM_001198777.2:c.*1386G>C, NM_001198777.1:c.*1386G>C, NM_001198778.2:c.*1386G>C, NM_001198778.1:c.*1386G>C, NM_001324375.2:c.*1386G>C, NM_001324375.1:c.*1386G>C, XM_047425852.1:c.*1386G>C, XM_011519743.1:c.*1386G>C, NM_001198779.1:c.*1386G>C, XM_011519744.1:c.*1386G>C

Select item 148160350710.

rs1481603507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:35008624 (GRCh38)
10:35297552 (GRCh37)
Canonical SPDI:: NC_000010.11:35008623:A:G
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.35008624A>G, NC_000010.10:g.35297552A>G, NM_003591.4:c.*1687T>C, NM_003591.3:c.*1687T>C, XM_011519745.2:c.*1687T>C, XM_011519745.1:c.*1687T>C, NM_001324376.2:c.*1687T>C, NM_001324376.1:c.*1687T>C, XM_011519747.2:c.*1687T>C, XM_011519747.1:c.*1687T>C, NM_001198777.2:c.*1687T>C, NM_001198777.1:c.*1687T>C, NM_001198778.2:c.*1687T>C, NM_001198778.1:c.*1687T>C, NM_001324375.2:c.*1687T>C, NM_001324375.1:c.*1687T>C, XM_047425852.1:c.*1687T>C, XM_011519743.1:c.*1687T>C, NM_001198779.1:c.*1687T>C, XM_011519744.1:c.*1687T>C

Select item 148123542511.

rs1481235425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:35009908 (GRCh38)
10:35298836 (GRCh37)
Canonical SPDI:: NC_000010.11:35009907:C:T
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
T=0.000153/21 (GnomAD)
T=0.000249/66 (TOPMED)
HGVS:: NC_000010.11:g.35009908C>T, NC_000010.10:g.35298836C>T, NM_003591.4:c.*403G>A, NM_003591.3:c.*403G>A, XM_011519745.2:c.*403G>A, XM_011519745.1:c.*403G>A, NM_001324376.2:c.*403G>A, NM_001324376.1:c.*403G>A, XM_011519747.2:c.*403G>A, XM_011519747.1:c.*403G>A, NM_001198777.2:c.*403G>A, NM_001198777.1:c.*403G>A, NM_001198778.2:c.*403G>A, NM_001198778.1:c.*403G>A, NM_001324375.2:c.*403G>A, NM_001324375.1:c.*403G>A, XM_047425852.1:c.*403G>A, XM_011519743.1:c.*403G>A, NM_001198779.1:c.*403G>A, XM_011519744.1:c.*403G>A

Select item 148100301212.

rs1481003012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:35010058 (GRCh38)
10:35298986 (GRCh37)
Canonical SPDI:: NC_000010.11:35010057:A:G
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.35010058A>G, NC_000010.10:g.35298986A>G, NM_003591.4:c.*253T>C, NM_003591.3:c.*253T>C, XM_011519745.2:c.*253T>C, XM_011519745.1:c.*253T>C, NM_001324376.2:c.*253T>C, NM_001324376.1:c.*253T>C, XM_011519747.2:c.*253T>C, XM_011519747.1:c.*253T>C, NM_001198777.2:c.*253T>C, NM_001198777.1:c.*253T>C, NM_001198778.2:c.*253T>C, NM_001198778.1:c.*253T>C, NM_001324375.2:c.*253T>C, NM_001324375.1:c.*253T>C, XM_047425852.1:c.*253T>C, XM_011519743.1:c.*253T>C, NM_001198779.1:c.*253T>C, XM_011519744.1:c.*253T>C

Select item 147847874513.

rs1478478745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:35008893 (GRCh38)
10:35297821 (GRCh37)
Canonical SPDI:: NC_000010.11:35008892:G:A
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000010.11:g.35008893G>A, NC_000010.10:g.35297821G>A, NM_003591.4:c.*1418C>T, NM_003591.3:c.*1418C>T, XM_011519745.2:c.*1418C>T, XM_011519745.1:c.*1418C>T, NM_001324376.2:c.*1418C>T, NM_001324376.1:c.*1418C>T, XM_011519747.2:c.*1418C>T, XM_011519747.1:c.*1418C>T, NM_001198777.2:c.*1418C>T, NM_001198777.1:c.*1418C>T, NM_001198778.2:c.*1418C>T, NM_001198778.1:c.*1418C>T, NM_001324375.2:c.*1418C>T, NM_001324375.1:c.*1418C>T, XM_047425852.1:c.*1418C>T, XM_011519743.1:c.*1418C>T, NM_001198779.1:c.*1418C>T, XM_011519744.1:c.*1418C>T

Select item 147672239614.

rs1476722396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:35009986 (GRCh38)
10:35298914 (GRCh37)
Canonical SPDI:: NC_000010.11:35009985:T:A,NC_000010.11:35009985:T:C
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000308/5 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000106/3 (TOMMO)
A=0.022245/65 (KOREAN)
HGVS:: NC_000010.11:g.35009986T>A, NC_000010.11:g.35009986T>C, NC_000010.10:g.35298914T>A, NC_000010.10:g.35298914T>C, NM_003591.4:c.*325A>T, NM_003591.4:c.*325A>G, NM_003591.3:c.*325A>T, NM_003591.3:c.*325A>G, XM_011519745.2:c.*325A>T, XM_011519745.2:c.*325A>G, XM_011519745.1:c.*325A>T, XM_011519745.1:c.*325A>G, NM_001324376.2:c.*325A>T, NM_001324376.2:c.*325A>G, NM_001324376.1:c.*325A>T, NM_001324376.1:c.*325A>G, XM_011519747.2:c.*325A>T, XM_011519747.2:c.*325A>G, XM_011519747.1:c.*325A>T, XM_011519747.1:c.*325A>G, NM_001198777.2:c.*325A>T, NM_001198777.2:c.*325A>G, NM_001198777.1:c.*325A>T, NM_001198777.1:c.*325A>G, NM_001198778.2:c.*325A>T, NM_001198778.2:c.*325A>G, NM_001198778.1:c.*325A>T, NM_001198778.1:c.*325A>G, NM_001324375.2:c.*325A>T, NM_001324375.2:c.*325A>G, NM_001324375.1:c.*325A>T, NM_001324375.1:c.*325A>G, XM_047425852.1:c.*325A>T, XM_047425852.1:c.*325A>G, XM_011519743.1:c.*325A>T, XM_011519743.1:c.*325A>G, NM_001198779.1:c.*325A>T, NM_001198779.1:c.*325A>G, XM_011519744.1:c.*325A>T, XM_011519744.1:c.*325A>G

Select item 147643603815.

rs1476436038 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:35009199 (GRCh38)
10:35298128 (GRCh37)
Canonical SPDI:: NC_000010.11:35009199:A:AA
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.0011/99 (GnomAD)
HGVS:: NC_000010.11:g.35009200dup, NC_000010.10:g.35298128dup, NM_003591.4:c.*1111dup, NM_003591.3:c.*1111dup, XM_011519745.2:c.*1111dup, XM_011519745.1:c.*1111dup, NM_001324376.2:c.*1111dup, NM_001324376.1:c.*1111dup, XM_011519747.2:c.*1111dup, XM_011519747.1:c.*1111dup, NM_001198777.2:c.*1111dup, NM_001198777.1:c.*1111dup, NM_001198778.2:c.*1111dup, NM_001198778.1:c.*1111dup, NM_001324375.2:c.*1111dup, NM_001324375.1:c.*1111dup, XM_047425852.1:c.*1111dup, XM_011519743.1:c.*1111dup, NM_001198779.1:c.*1111dup, XM_011519744.1:c.*1111dup

Select item 147502390516.

rs1475023905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:35031569 (GRCh38)
10:35320497 (GRCh37)
Canonical SPDI:: NC_000010.11:35031568:T:C,NC_000010.11:35031568:T:G
Gene:: CUL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.35031569T>C, NC_000010.11:g.35031569T>G, NC_000010.10:g.35320497T>C, NC_000010.10:g.35320497T>G, NM_003591.4:c.1221A>G, NM_003591.4:c.1221A>C, NM_003591.3:c.1221A>G, NM_003591.3:c.1221A>C, XM_011519745.2:c.1410A>G, XM_011519745.2:c.1410A>C, XM_011519745.1:c.1410A>G, XM_011519745.1:c.1410A>C, NM_001324376.2:c.828A>G, NM_001324376.2:c.828A>C, NM_001324376.1:c.828A>G, NM_001324376.1:c.828A>C, XM_011519747.2:c.1221A>G, XM_011519747.2:c.1221A>C, XM_011519747.1:c.1221A>G, XM_011519747.1:c.1221A>C, NM_001198777.2:c.1221A>G, NM_001198777.2:c.1221A>C, NM_001198777.1:c.1221A>G, NM_001198777.1:c.1221A>C, NM_001198778.2:c.1278A>G, NM_001198778.2:c.1278A>C, NM_001198778.1:c.1278A>G, NM_001198778.1:c.1278A>C, NM_001324375.2:c.1032A>G, NM_001324375.2:c.1032A>C, NM_001324375.1:c.1032A>G, NM_001324375.1:c.1032A>C, XM_047425852.1:c.1410A>G, XM_047425852.1:c.1410A>C, XM_011519743.1:c.1410A>G, XM_011519743.1:c.1410A>C, NM_001198779.1:c.1260A>G, NM_001198779.1:c.1260A>C, XM_011519744.1:c.1410A>G, XM_011519744.1:c.1410A>C

Select item 147477458417.

rs1474774584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:35044596 (GRCh38)
10:35333524 (GRCh37)
Canonical SPDI:: NC_000010.11:35044595:T:C,NC_000010.11:35044595:T:G
Gene:: CUL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.35044596T>C, NC_000010.11:g.35044596T>G, NC_000010.10:g.35333524T>C, NC_000010.10:g.35333524T>G, NM_003591.4:c.684A>G, NM_003591.4:c.684A>C, NM_003591.3:c.684A>G, NM_003591.3:c.684A>C, XM_011519745.2:c.873A>G, XM_011519745.2:c.873A>C, XM_011519745.1:c.873A>G, XM_011519745.1:c.873A>C, NM_001324376.2:c.291A>G, NM_001324376.2:c.291A>C, NM_001324376.1:c.291A>G, NM_001324376.1:c.291A>C, XM_011519747.2:c.684A>G, XM_011519747.2:c.684A>C, XM_011519747.1:c.684A>G, XM_011519747.1:c.684A>C, NM_001198777.2:c.684A>G, NM_001198777.2:c.684A>C, NM_001198777.1:c.684A>G, NM_001198777.1:c.684A>C, NM_001198778.2:c.741A>G, NM_001198778.2:c.741A>C, NM_001198778.1:c.741A>G, NM_001198778.1:c.741A>C, NM_001324375.2:c.495A>G, NM_001324375.2:c.495A>C, NM_001324375.1:c.495A>G, NM_001324375.1:c.495A>C, XM_047425852.1:c.873A>G, XM_047425852.1:c.873A>C, XM_011519743.1:c.873A>G, XM_011519743.1:c.873A>C, NM_001198779.1:c.723A>G, NM_001198779.1:c.723A>C, XM_011519744.1:c.873A>G, XM_011519744.1:c.873A>C, NP_003582.2:p.Gln228His, XP_011518047.1:p.Gln291His, NP_001311305.1:p.Gln97His, XP_011518049.1:p.Gln228His, NP_001185706.1:p.Gln228His, NP_001185707.1:p.Gln247His, NP_001311304.1:p.Gln165His, XP_047281808.1:p.Gln291His, XP_011518045.1:p.Gln291His, NP_001185708.1:p.Gln241His, XP_011518046.1:p.Gln291His

Select item 147111557718.

rs1471115577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:35025143 (GRCh38)
10:35314071 (GRCh37)
Canonical SPDI:: NC_000010.11:35025142:T:C
Gene:: CUL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.35025143T>C, NC_000010.10:g.35314071T>C, NM_003591.4:c.1673A>G, NM_003591.3:c.1673A>G, XM_011519745.2:c.1862A>G, XM_011519745.1:c.1862A>G, NM_001324376.2:c.1280A>G, NM_001324376.1:c.1280A>G, XM_011519747.2:c.1673A>G, XM_011519747.1:c.1673A>G, NM_001198777.2:c.1673A>G, NM_001198777.1:c.1673A>G, NM_001198778.2:c.1730A>G, NM_001198778.1:c.1730A>G, NM_001324375.2:c.1484A>G, NM_001324375.1:c.1484A>G, XM_047425852.1:c.1862A>G, XM_011519743.1:c.1862A>G, NM_001198779.1:c.1712A>G, XM_011519744.1:c.1862A>G, NP_003582.2:p.Tyr558Cys, XP_011518047.1:p.Tyr621Cys, NP_001311305.1:p.Tyr427Cys, XP_011518049.1:p.Tyr558Cys, NP_001185706.1:p.Tyr558Cys, NP_001185707.1:p.Tyr577Cys, NP_001311304.1:p.Tyr495Cys, XP_047281808.1:p.Tyr621Cys, XP_011518045.1:p.Tyr621Cys, NP_001185708.1:p.Tyr571Cys, XP_011518046.1:p.Tyr621Cys

Select item 147068896319.

rs1470688963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:35009629 (GRCh38)
10:35298557 (GRCh37)
Canonical SPDI:: NC_000010.11:35009628:A:G
Gene:: CUL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000042/11 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.35009629A>G, NC_000010.10:g.35298557A>G, NM_003591.4:c.*682T>C, NM_003591.3:c.*682T>C, XM_011519745.2:c.*682T>C, XM_011519745.1:c.*682T>C, NM_001324376.2:c.*682T>C, NM_001324376.1:c.*682T>C, XM_011519747.2:c.*682T>C, XM_011519747.1:c.*682T>C, NM_001198777.2:c.*682T>C, NM_001198777.1:c.*682T>C, NM_001198778.2:c.*682T>C, NM_001198778.1:c.*682T>C, NM_001324375.2:c.*682T>C, NM_001324375.1:c.*682T>C, XM_047425852.1:c.*682T>C, XM_011519743.1:c.*682T>C, NM_001198779.1:c.*682T>C, XM_011519744.1:c.*682T>C

Select item 147019915020.

rs1470199150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:35126605 (GRCh38)
10:35415533 (GRCh37)
Canonical SPDI:: NC_000010.11:35126604:C:G
Gene:: CREM (Varview), CUL2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.35126605C>G, NC_000010.10:g.35415533C>G, NG_029065.1:g.4733C>G, XM_047425852.1:c.-1443G>C, XM_011519743.1:c.-146G>C, XM_011519744.1:c.-51G>C

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