SNP Links for Protein (Select 224589117) - SNP

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Links from Protein

Items: 1 to 20 of 119

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Select item 14886456561.

rs1488645656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:56116101 (GRCh38)
7:56183794 (GRCh37)
Canonical SPDI:: NC_000007.14:56116100:C:T
Gene:: NUPR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116101C>T, NC_000007.13:g.56183794C>T, NM_001145712.2:c.214G>A, NM_001145712.1:c.214G>A, NP_001139184.1:p.Val72Ile

Select item 14839849482.

rs1483984948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:56116024 (GRCh38)
7:56183717 (GRCh37)
Canonical SPDI:: NC_000007.14:56116023:G:A,NC_000007.14:56116023:G:T
Gene:: NUPR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.56116024G>A, NC_000007.14:g.56116024G>T, NC_000007.13:g.56183717G>A, NC_000007.13:g.56183717G>T, NM_001145712.2:c.291C>T, NM_001145712.2:c.291C>A, NM_001145712.1:c.291C>T, NM_001145712.1:c.291C>A

Select item 14731016193.

rs1473101619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:56116254 (GRCh38)
7:56183947 (GRCh37)
Canonical SPDI:: NC_000007.14:56116253:G:T
Gene:: NUPR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.56116254G>T, NC_000007.13:g.56183947G>T, NM_001145712.2:c.61C>A, NM_001145712.1:c.61C>A, NP_001139184.1:p.Pro21Thr

Select item 14645951994.

rs1464595199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:56116110 (GRCh38)
7:56183803 (GRCh37)
Canonical SPDI:: NC_000007.14:56116109:C:A,NC_000007.14:56116109:C:G
Gene:: NUPR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116110C>A, NC_000007.14:g.56116110C>G, NC_000007.13:g.56183803C>A, NC_000007.13:g.56183803C>G, NM_001145712.2:c.205G>T, NM_001145712.2:c.205G>C, NM_001145712.1:c.205G>T, NM_001145712.1:c.205G>C, NP_001139184.1:p.Glu69Ter, NP_001139184.1:p.Glu69Gln

Select item 14597276615.

rs1459727661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:56116134 (GRCh38)
7:56183827 (GRCh37)
Canonical SPDI:: NC_000007.14:56116133:T:A,NC_000007.14:56116133:T:C
Gene:: NUPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000048/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116134T>A, NC_000007.14:g.56116134T>C, NC_000007.13:g.56183827T>A, NC_000007.13:g.56183827T>C, NM_001145712.2:c.181A>T, NM_001145712.2:c.181A>G, NM_001145712.1:c.181A>T, NM_001145712.1:c.181A>G, NP_001139184.1:p.Asn61Tyr, NP_001139184.1:p.Asn61Asp

Select item 14581090506.

rs1458109050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:56116200 (GRCh38)
7:56183893 (GRCh37)
Canonical SPDI:: NC_000007.14:56116199:C:A,NC_000007.14:56116199:C:T
Gene:: NUPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.56116200C>A, NC_000007.14:g.56116200C>T, NC_000007.13:g.56183893C>A, NC_000007.13:g.56183893C>T, NM_001145712.2:c.115G>T, NM_001145712.2:c.115G>A, NM_001145712.1:c.115G>T, NM_001145712.1:c.115G>A, NP_001139184.1:p.Asp39Tyr, NP_001139184.1:p.Asp39Asn

Select item 14488977907.

rs1448897790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:56116048 (GRCh38)
7:56183741 (GRCh37)
Canonical SPDI:: NC_000007.14:56116047:A:G,NC_000007.14:56116047:A:T
Gene:: NUPR2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116048A>G, NC_000007.14:g.56116048A>T, NC_000007.13:g.56183741A>G, NC_000007.13:g.56183741A>T, NM_001145712.2:c.267T>C, NM_001145712.2:c.267T>A, NM_001145712.1:c.267T>C, NM_001145712.1:c.267T>A, NP_001139184.1:p.His89Gln

Select item 14375934778.

rs1437593477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:56116273 (GRCh38)
7:56183966 (GRCh37)
Canonical SPDI:: NC_000007.14:56116272:A:G
Gene:: NUPR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56116273A>G, NC_000007.13:g.56183966A>G, NM_001145712.2:c.42T>C, NM_001145712.1:c.42T>C

Select item 14336183699.

rs1433618369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56116030 (GRCh38)
7:56183723 (GRCh37)
Canonical SPDI:: NC_000007.14:56116029:G:A
Gene:: NUPR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116030G>A, NC_000007.13:g.56183723G>A, NM_001145712.2:c.285C>T, NM_001145712.1:c.285C>T

Select item 143106340610.

rs1431063406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56116259 (GRCh38)
7:56183952 (GRCh37)
Canonical SPDI:: NC_000007.14:56116258:G:A
Gene:: NUPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.56116259G>A, NC_000007.13:g.56183952G>A, NM_001145712.2:c.56C>T, NM_001145712.1:c.56C>T, NP_001139184.1:p.Pro19Leu

Select item 142604576811.

rs1426045768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56116189 (GRCh38)
7:56183882 (GRCh37)
Canonical SPDI:: NC_000007.14:56116188:G:A
Gene:: NUPR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116189G>A, NC_000007.13:g.56183882G>A, NM_001145712.2:c.126C>T, NM_001145712.1:c.126C>T

Select item 142356787112.

rs1423567871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:56116257 (GRCh38)
7:56183950 (GRCh37)
Canonical SPDI:: NC_000007.14:56116256:G:A,NC_000007.14:56116256:G:T
Gene:: NUPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.56116257G>A, NC_000007.14:g.56116257G>T, NC_000007.13:g.56183950G>A, NC_000007.13:g.56183950G>T, NM_001145712.2:c.58C>T, NM_001145712.2:c.58C>A, NM_001145712.1:c.58C>T, NM_001145712.1:c.58C>A, NP_001139184.1:p.Pro20Ser, NP_001139184.1:p.Pro20Thr

Select item 142325118013.

rs1423251180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56116062 (GRCh38)
7:56183755 (GRCh37)
Canonical SPDI:: NC_000007.14:56116061:G:A
Gene:: NUPR2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000028/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116062G>A, NC_000007.13:g.56183755G>A, NM_001145712.2:c.253C>T, NM_001145712.1:c.253C>T, NP_001139184.1:p.Gln85Ter

Select item 142219274114.

rs1422192741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:56116124 (GRCh38)
7:56183817 (GRCh37)
Canonical SPDI:: NC_000007.14:56116123:G:T
Gene:: NUPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.56116124G>T, NC_000007.13:g.56183817G>T, NM_001145712.2:c.191C>A, NM_001145712.1:c.191C>A, NP_001139184.1:p.Ala64Glu

Select item 141167592215.

rs1411675922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:56116199 (GRCh38)
7:56183892 (GRCh37)
Canonical SPDI:: NC_000007.14:56116198:T:C
Gene:: NUPR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116199T>C, NC_000007.13:g.56183892T>C, NM_001145712.2:c.116A>G, NM_001145712.1:c.116A>G, NP_001139184.1:p.Asp39Gly

Select item 141042372416.

rs1410423724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:56116198 (GRCh38)
7:56183891 (GRCh37)
Canonical SPDI:: NC_000007.14:56116197:G:T
Gene:: NUPR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000007.14:g.56116198G>T, NC_000007.13:g.56183891G>T, NM_001145712.2:c.117C>A, NM_001145712.1:c.117C>A, NP_001139184.1:p.Asp39Glu

Select item 141041010417.

rs1410410104 [Homo sapiens]

Variant type:: DEL
Alleles:: GCCCGCT>- [Show Flanks]
Chromosome:: 7:56116292 (GRCh38)
7:56183985 (GRCh37)
Canonical SPDI:: NC_000007.14:56116291:GCCCGCT:
Gene:: NUPR2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000015/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56116292_56116298del, NC_000007.13:g.56183985_56183991del, NM_001145712.2:c.17_23del, NM_001145712.1:c.17_23del, NP_001139184.1:p.Glu6fs

Select item 140244731318.

rs1402447313 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAGCGCCCGCTCTGCGGG>- [Show Flanks]
Chromosome:: 7:56116287 (GRCh38)
7:56183980 (GRCh37)
Canonical SPDI:: NC_000007.14:56116285:GGAAGCGCCCGCTCTGCGGG:G
Gene:: NUPR2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56116287_56116305del, NC_000007.13:g.56183980_56183998del, NM_001145712.2:c.11_29del, NM_001145712.1:c.11_29del, NP_001139184.1:p.Pro4fs

Select item 140210808919.

rs1402108089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:56116093 (GRCh38)
7:56183786 (GRCh37)
Canonical SPDI:: NC_000007.14:56116092:C:T
Gene:: NUPR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.56116093C>T, NC_000007.13:g.56183786C>T, NM_001145712.2:c.222G>A, NM_001145712.1:c.222G>A

Select item 139924496320.

rs1399244963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:56116193 (GRCh38)
7:56183886 (GRCh37)
Canonical SPDI:: NC_000007.14:56116192:G:C,NC_000007.14:56116192:G:T
Gene:: NUPR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.56116193G>C, NC_000007.14:g.56116193G>T, NC_000007.13:g.56183886G>C, NC_000007.13:g.56183886G>T, NM_001145712.2:c.122C>G, NM_001145712.2:c.122C>A, NM_001145712.1:c.122C>G, NM_001145712.1:c.122C>A, NP_001139184.1:p.Pro41Arg, NP_001139184.1:p.Pro41Gln

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