SNP Links for Protein (Select 1034600598) - SNP

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Links from Protein

Items: 1 to 20 of 488

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Select item 14832199401.

rs1483219940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29286335 (GRCh38)
17:27613353 (GRCh37)
Canonical SPDI:: NC_000017.11:29286334:G:A
Gene:: NUFIP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29286335G>A, NC_000017.10:g.27613353G>A, NM_020772.3:c.1659C>T, NM_020772.2:c.1659C>T, XM_017024896.3:c.1182C>T, XM_017024896.2:c.1182C>T, XM_017024896.1:c.1182C>T

Select item 14819060092.

rs1481906009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:29286757 (GRCh38)
17:27613775 (GRCh37)
Canonical SPDI:: NC_000017.11:29286756:T:G
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29286757T>G, NC_000017.10:g.27613775T>G, NM_020772.3:c.1237A>C, NM_020772.2:c.1237A>C, XM_017024896.3:c.760A>C, XM_017024896.2:c.760A>C, XM_017024896.1:c.760A>C, NP_065823.1:p.Asn413His, XP_016880385.1:p.Asn254His

Select item 14776868573.

rs1477686857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29286346 (GRCh38)
17:27613364 (GRCh37)
Canonical SPDI:: NC_000017.11:29286345:C:T
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29286346C>T, NC_000017.10:g.27613364C>T, NM_020772.3:c.1648G>A, NM_020772.2:c.1648G>A, XM_017024896.3:c.1171G>A, XM_017024896.2:c.1171G>A, XM_017024896.1:c.1171G>A, NP_065823.1:p.Glu550Lys, XP_016880385.1:p.Glu391Lys

Select item 14761411474.

rs1476141147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29286883 (GRCh38)
17:27613901 (GRCh37)
Canonical SPDI:: NC_000017.11:29286882:G:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29286883G>C, NC_000017.10:g.27613901G>C, NM_020772.3:c.1111C>G, NM_020772.2:c.1111C>G, XM_017024896.3:c.634C>G, XM_017024896.2:c.634C>G, XM_017024896.1:c.634C>G, NP_065823.1:p.Gln371Glu, XP_016880385.1:p.Gln212Glu

Select item 14759763005.

rs1475976300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29286485 (GRCh38)
17:27613503 (GRCh37)
Canonical SPDI:: NC_000017.11:29286484:G:A
Gene:: NUFIP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29286485G>A, NC_000017.10:g.27613503G>A, NM_020772.3:c.1509C>T, NM_020772.2:c.1509C>T, XM_017024896.3:c.1032C>T, XM_017024896.2:c.1032C>T, XM_017024896.1:c.1032C>T

Select item 14759165216.

rs1475916521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29287232 (GRCh38)
17:27614250 (GRCh37)
Canonical SPDI:: NC_000017.11:29287231:T:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29287232T>C, NC_000017.10:g.27614250T>C, NM_020772.3:c.762A>G, NM_020772.2:c.762A>G, XM_017024896.3:c.285A>G, XM_017024896.2:c.285A>G, XM_017024896.1:c.285A>G

Select item 14756092687.

rs1475609268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29287029 (GRCh38)
17:27614047 (GRCh37)
Canonical SPDI:: NC_000017.11:29287028:T:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.29287029T>C, NC_000017.10:g.27614047T>C, NM_020772.3:c.965A>G, NM_020772.2:c.965A>G, XM_017024896.3:c.488A>G, XM_017024896.2:c.488A>G, XM_017024896.1:c.488A>G, NP_065823.1:p.Lys322Arg, XP_016880385.1:p.Lys163Arg

Select item 14750919358.

rs1475091935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:29287275 (GRCh38)
17:27614293 (GRCh37)
Canonical SPDI:: NC_000017.11:29287274:A:G
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29287275A>G, NC_000017.10:g.27614293A>G, NM_020772.3:c.719T>C, NM_020772.2:c.719T>C, XM_017024896.3:c.242T>C, XM_017024896.2:c.242T>C, XM_017024896.1:c.242T>C, NP_065823.1:p.Val240Ala, XP_016880385.1:p.Val81Ala

Select item 14741032599.

rs1474103259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29287371 (GRCh38)
17:27614389 (GRCh37)
Canonical SPDI:: NC_000017.11:29287370:T:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.29287371T>C, NC_000017.10:g.27614389T>C, NM_020772.3:c.623A>G, NM_020772.2:c.623A>G, XM_017024896.3:c.146A>G, XM_017024896.2:c.146A>G, XM_017024896.1:c.146A>G, NP_065823.1:p.Asp208Gly, XP_016880385.1:p.Asp49Gly

Select item 147265106710.

rs1472651067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29286555 (GRCh38)
17:27613573 (GRCh37)
Canonical SPDI:: NC_000017.11:29286554:G:A
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29286555G>A, NC_000017.10:g.27613573G>A, NM_020772.3:c.1439C>T, NM_020772.2:c.1439C>T, XM_017024896.3:c.962C>T, XM_017024896.2:c.962C>T, XM_017024896.1:c.962C>T, NP_065823.1:p.Thr480Ile, XP_016880385.1:p.Thr321Ile

Select item 147162250811.

rs1471622508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29287285 (GRCh38)
17:27614303 (GRCh37)
Canonical SPDI:: NC_000017.11:29287284:G:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29287285G>C, NC_000017.10:g.27614303G>C, NM_020772.3:c.709C>G, NM_020772.2:c.709C>G, XM_017024896.3:c.232C>G, XM_017024896.2:c.232C>G, XM_017024896.1:c.232C>G, NP_065823.1:p.Leu237Val, XP_016880385.1:p.Leu78Val

Select item 147117939912.

rs1471179399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:29286647 (GRCh38)
17:27613665 (GRCh37)
Canonical SPDI:: NC_000017.11:29286646:C:A
Gene:: NUFIP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29286647C>A, NC_000017.10:g.27613665C>A, NM_020772.3:c.1347G>T, NM_020772.2:c.1347G>T, XM_017024896.3:c.870G>T, XM_017024896.2:c.870G>T, XM_017024896.1:c.870G>T

Select item 146922502013.

rs1469225020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29286175 (GRCh38)
17:27613193 (GRCh37)
Canonical SPDI:: NC_000017.11:29286174:T:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29286175T>C, NC_000017.10:g.27613193T>C, NM_020772.3:c.1819A>G, NM_020772.2:c.1819A>G, XM_017024896.3:c.1342A>G, XM_017024896.2:c.1342A>G, XM_017024896.1:c.1342A>G, NP_065823.1:p.Ser607Gly, XP_016880385.1:p.Ser448Gly

Select item 146886739514.

rs1468867395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29264561 (GRCh38)
17:27591579 (GRCh37)
Canonical SPDI:: NC_000017.11:29264560:G:A
Gene:: NUFIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29264561G>A, NC_000017.10:g.27591579G>A, NM_020772.3:c.2066C>T, NM_020772.2:c.2066C>T, XM_017024896.3:c.1589C>T, XM_017024896.2:c.1589C>T, XM_017024896.1:c.1589C>T, NP_065823.1:p.Ala689Val, XP_016880385.1:p.Ala530Val

Select item 146764184315.

rs1467641843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:29286973 (GRCh38)
17:27613991 (GRCh37)
Canonical SPDI:: NC_000017.11:29286972:G:A,NC_000017.11:29286972:G:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29286973G>A, NC_000017.11:g.29286973G>C, NC_000017.10:g.27613991G>A, NC_000017.10:g.27613991G>C, NM_020772.3:c.1021C>T, NM_020772.3:c.1021C>G, NM_020772.2:c.1021C>T, NM_020772.2:c.1021C>G, XM_017024896.3:c.544C>T, XM_017024896.3:c.544C>G, XM_017024896.2:c.544C>T, XM_017024896.2:c.544C>G, XM_017024896.1:c.544C>T, XM_017024896.1:c.544C>G, NP_065823.1:p.Pro341Ser, NP_065823.1:p.Pro341Ala, XP_016880385.1:p.Pro182Ser, XP_016880385.1:p.Pro182Ala

Select item 146460046016.

rs1464600460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29286829 (GRCh38)
17:27613847 (GRCh37)
Canonical SPDI:: NC_000017.11:29286828:C:T
Gene:: NUFIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29286829C>T, NC_000017.10:g.27613847C>T, NM_020772.3:c.1165G>A, NM_020772.2:c.1165G>A, XM_017024896.3:c.688G>A, XM_017024896.2:c.688G>A, XM_017024896.1:c.688G>A, NP_065823.1:p.Glu389Lys, XP_016880385.1:p.Glu230Lys

Select item 146444359717.

rs1464443597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:29286045 (GRCh38)
17:27613063 (GRCh37)
Canonical SPDI:: NC_000017.11:29286044:T:A
Gene:: NUFIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29286045T>A, NC_000017.10:g.27613063T>A, NM_020772.3:c.1949A>T, NM_020772.2:c.1949A>T, XM_017024896.3:c.1472A>T, XM_017024896.2:c.1472A>T, XM_017024896.1:c.1472A>T, NP_065823.1:p.Asn650Ile, XP_016880385.1:p.Asn491Ile

Select item 146326147618.

rs1463261476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29287224 (GRCh38)
17:27614242 (GRCh37)
Canonical SPDI:: NC_000017.11:29287223:C:T
Gene:: NUFIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.29287224C>T, NC_000017.10:g.27614242C>T, NM_020772.3:c.770G>A, NM_020772.2:c.770G>A, XM_017024896.3:c.293G>A, XM_017024896.2:c.293G>A, XM_017024896.1:c.293G>A, NP_065823.1:p.Gly257Glu, XP_016880385.1:p.Gly98Glu

Select item 146298983319.

rs1462989833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29286839 (GRCh38)
17:27613857 (GRCh37)
Canonical SPDI:: NC_000017.11:29286838:T:C
Gene:: NUFIP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29286839T>C, NC_000017.10:g.27613857T>C, NM_020772.3:c.1155A>G, NM_020772.2:c.1155A>G, XM_017024896.3:c.678A>G, XM_017024896.2:c.678A>G, XM_017024896.1:c.678A>G

Select item 146290050320.

rs1462900503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29286915 (GRCh38)
17:27613933 (GRCh37)
Canonical SPDI:: NC_000017.11:29286914:C:T
Gene:: NUFIP2 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29286915C>T, NC_000017.10:g.27613933C>T, NM_020772.3:c.1079G>A, NM_020772.2:c.1079G>A, XM_017024896.3:c.602G>A, XM_017024896.2:c.602G>A, XM_017024896.1:c.602G>A, NP_065823.1:p.Ser360Asn, XP_016880385.1:p.Ser201Asn

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