SNP Links for Protein (Select 14249178) - SNP

Links from Protein

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Select item 14900566881.

rs1490056688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6872849 (GRCh38)
12:6982013 (GRCh37)
Canonical SPDI:: NC_000012.12:6872848:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872849G>A, NC_000012.11:g.6982013G>A, NG_011948.1:g.10430G>A, NG_013308.1:g.5509C>T, NM_032641.4:c.53C>T, NM_032641.3:c.53C>T, NM_001319670.2:c.53C>T, NM_001319670.1:c.53C>T, NM_001146316.2:c.53C>T, NM_001146316.1:c.53C>T, NW_003871083.2:g.74433G>A, NM_001146317.1:c.53C>T, NP_116030.1:p.Ala18Val, NP_001306599.1:p.Ala18Val, NP_001139788.1:p.Ala18Val

Select item 14888270462.

rs1488827046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6872391 (GRCh38)
12:6981555 (GRCh37)
Canonical SPDI:: NC_000012.12:6872390:G:C
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6872391G>C, NC_000012.11:g.6981555G>C, NG_011948.1:g.9972G>C, NG_013308.1:g.5967C>G, NM_032641.4:c.511C>G, NM_032641.3:c.511C>G, NM_001319670.2:c.511C>G, NM_001319670.1:c.511C>G, NM_001146316.2:c.511C>G, NM_001146316.1:c.511C>G, NW_003871083.2:g.73975G>C, NM_001146317.1:c.511C>G, NP_116030.1:p.Leu171Val, NP_001306599.1:p.Leu171Val, NP_001139788.1:p.Leu171Val

Select item 14669376823.

rs1466937682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6872557 (GRCh38)
12:6981721 (GRCh37)
Canonical SPDI:: NC_000012.12:6872556:C:T
Gene:: SPSB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6872557C>T, NC_000012.11:g.6981721C>T, NG_011948.1:g.10138C>T, NG_013308.1:g.5801G>A, NM_032641.4:c.345G>A, NM_032641.3:c.345G>A, NM_001319670.2:c.345G>A, NM_001319670.1:c.345G>A, NM_001146316.2:c.345G>A, NM_001146316.1:c.345G>A, NW_003871083.2:g.74141C>T, NM_001146317.1:c.345G>A

Select item 14588207614.

rs1458820761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6872686 (GRCh38)
12:6981850 (GRCh37)
Canonical SPDI:: NC_000012.12:6872685:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6872686G>A, NC_000012.11:g.6981850G>A, NG_011948.1:g.10267G>A, NG_013308.1:g.5672C>T, NM_032641.4:c.216C>T, NM_032641.3:c.216C>T, NM_001319670.2:c.216C>T, NM_001319670.1:c.216C>T, NM_001146316.2:c.216C>T, NM_001146316.1:c.216C>T, NW_003871083.2:g.74270G>A, NM_001146317.1:c.216C>T

Select item 14469827875.

rs1446982787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:6872317 (GRCh38)
12:6981481 (GRCh37)
Canonical SPDI:: NC_000012.12:6872316:C:A
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6872317C>A, NC_000012.11:g.6981481C>A, NG_011948.1:g.9898C>A, NG_013308.1:g.6041G>T, NM_032641.4:c.585G>T, NM_032641.3:c.585G>T, NM_001319670.2:c.585G>T, NM_001319670.1:c.585G>T, NM_001146316.2:c.585G>T, NM_001146316.1:c.585G>T, NW_003871083.2:g.73901C>A, NM_001146317.1:c.585G>T, NP_116030.1:p.Lys195Asn, NP_001306599.1:p.Lys195Asn, NP_001139788.1:p.Lys195Asn

Select item 14413768556.

rs1441376855 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:6872775 (GRCh38)
12:6981939 (GRCh37)
Canonical SPDI:: NC_000012.12:6872774:GGG:GG
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872777del, NC_000012.11:g.6981941del, NG_011948.1:g.10358del, NG_013308.1:g.5583del, NM_032641.4:c.127del, NM_032641.3:c.127del, NM_001319670.2:c.127del, NM_001319670.1:c.127del, NM_001146316.2:c.127del, NM_001146316.1:c.127del, NW_003871083.2:g.74361del, NM_001146317.1:c.127del, NP_116030.1:p.Gln43fs, NP_001306599.1:p.Gln43fs, NP_001139788.1:p.Gln43fs

Select item 14252416457.

rs1425241645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6872767 (GRCh38)
12:6981931 (GRCh37)
Canonical SPDI:: NC_000012.12:6872766:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872767G>A, NC_000012.11:g.6981931G>A, NG_011948.1:g.10348G>A, NG_013308.1:g.5591C>T, NM_032641.4:c.135C>T, NM_032641.3:c.135C>T, NM_001319670.2:c.135C>T, NM_001319670.1:c.135C>T, NM_001146316.2:c.135C>T, NM_001146316.1:c.135C>T, NW_003871083.2:g.74351G>A, NM_001146317.1:c.135C>T

Select item 14228436628.

rs1422843662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6871212 (GRCh38)
12:6980376 (GRCh37)
Canonical SPDI:: NC_000012.12:6871211:G:A
Gene:: TPI1 (Varview), SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.6871212G>A, NC_000012.11:g.6980376G>A, NG_011948.1:g.8793G>A, NG_013308.1:g.7146C>T, NM_032641.4:c.772C>T, NM_032641.3:c.772C>T, NM_001319670.2:c.772C>T, NM_001319670.1:c.772C>T, NM_001146316.2:c.772C>T, NM_001146316.1:c.772C>T, NW_003871083.2:g.72796G>A, NP_116030.1:p.Arg258Cys, NP_001306599.1:p.Arg258Cys, NP_001139788.1:p.Arg258Cys

Select item 14189147009.

rs1418914700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6872384 (GRCh38)
12:6981548 (GRCh37)
Canonical SPDI:: NC_000012.12:6872383:A:G
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6872384A>G, NC_000012.11:g.6981548A>G, NG_011948.1:g.9965A>G, NG_013308.1:g.5974T>C, NM_032641.4:c.518T>C, NM_032641.3:c.518T>C, NM_001319670.2:c.518T>C, NM_001319670.1:c.518T>C, NM_001146316.2:c.518T>C, NM_001146316.1:c.518T>C, NW_003871083.2:g.73968A>G, NM_001146317.1:c.518T>C, NP_116030.1:p.Met173Thr, NP_001306599.1:p.Met173Thr, NP_001139788.1:p.Met173Thr

Select item 141512901310.

rs1415129013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:6872267 (GRCh38)
12:6981431 (GRCh37)
Canonical SPDI:: NC_000012.12:6872266:A:C
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.6872267A>C, NC_000012.11:g.6981431A>C, NG_011948.1:g.9848A>C, NG_013308.1:g.6091T>G, NM_032641.4:c.635T>G, NM_032641.3:c.635T>G, NM_001319670.2:c.635T>G, NM_001319670.1:c.635T>G, NM_001146316.2:c.635T>G, NM_001146316.1:c.635T>G, NW_003871083.2:g.73851A>C, NM_001146317.1:c.635T>G, NP_116030.1:p.Val212Gly, NP_001306599.1:p.Val212Gly, NP_001139788.1:p.Val212Gly

Select item 140824419111.

rs1408244191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6872751 (GRCh38)
12:6981915 (GRCh37)
Canonical SPDI:: NC_000012.12:6872750:T:C
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872751T>C, NC_000012.11:g.6981915T>C, NG_011948.1:g.10332T>C, NG_013308.1:g.5607A>G, NM_032641.4:c.151A>G, NM_032641.3:c.151A>G, NM_001319670.2:c.151A>G, NM_001319670.1:c.151A>G, NM_001146316.2:c.151A>G, NM_001146316.1:c.151A>G, NW_003871083.2:g.74335T>C, NM_001146317.1:c.151A>G, NP_116030.1:p.Lys51Glu, NP_001306599.1:p.Lys51Glu, NP_001139788.1:p.Lys51Glu

Select item 140448757612.

rs1404487576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6872799 (GRCh38)
12:6981963 (GRCh37)
Canonical SPDI:: NC_000012.12:6872798:C:T
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872799C>T, NC_000012.11:g.6981963C>T, NG_011948.1:g.10380C>T, NG_013308.1:g.5559G>A, NM_032641.4:c.103G>A, NM_032641.3:c.103G>A, NM_001319670.2:c.103G>A, NM_001319670.1:c.103G>A, NM_001146316.2:c.103G>A, NM_001146316.1:c.103G>A, NW_003871083.2:g.74383C>T, NM_001146317.1:c.103G>A, NP_116030.1:p.Ala35Thr, NP_001306599.1:p.Ala35Thr, NP_001139788.1:p.Ala35Thr

Select item 140220432313.

rs1402204323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:6872823 (GRCh38)
12:6981987 (GRCh37)
Canonical SPDI:: NC_000012.12:6872822:C:G,NC_000012.12:6872822:C:T
Gene:: SPSB2 (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_000012.12:g.6872823C>G, NC_000012.12:g.6872823C>T, NC_000012.11:g.6981987C>G, NC_000012.11:g.6981987C>T, NG_011948.1:g.10404C>G, NG_011948.1:g.10404C>T, NG_013308.1:g.5535G>C, NG_013308.1:g.5535G>A, NM_032641.4:c.79G>C, NM_032641.4:c.79G>A, NM_032641.3:c.79G>C, NM_032641.3:c.79G>A, NM_001319670.2:c.79G>C, NM_001319670.2:c.79G>A, NM_001319670.1:c.79G>C, NM_001319670.1:c.79G>A, NM_001146316.2:c.79G>C, NM_001146316.2:c.79G>A, NM_001146316.1:c.79G>C, NM_001146316.1:c.79G>A, NW_003871083.2:g.74407C>G, NW_003871083.2:g.74407C>T, NM_001146317.1:c.79G>C, NM_001146317.1:c.79G>A, NP_116030.1:p.Glu27Gln, NP_116030.1:p.Glu27Lys, NP_001306599.1:p.Glu27Gln, NP_001306599.1:p.Glu27Lys, NP_001139788.1:p.Glu27Gln, NP_001139788.1:p.Glu27Lys

Select item 139300626414.

rs1393006264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6872755 (GRCh38)
12:6981919 (GRCh37)
Canonical SPDI:: NC_000012.12:6872754:G:C
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6872755G>C, NC_000012.11:g.6981919G>C, NG_011948.1:g.10336G>C, NG_013308.1:g.5603C>G, NM_032641.4:c.147C>G, NM_032641.3:c.147C>G, NM_001319670.2:c.147C>G, NM_001319670.1:c.147C>G, NM_001146316.2:c.147C>G, NM_001146316.1:c.147C>G, NW_003871083.2:g.74339G>C, NM_001146317.1:c.147C>G, NP_116030.1:p.Asn49Lys, NP_001306599.1:p.Asn49Lys, NP_001139788.1:p.Asn49Lys

Select item 138431143715.

rs1384311437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:6872768 (GRCh38)
12:6981932 (GRCh37)
Canonical SPDI:: NC_000012.12:6872767:C:A
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872768C>A, NC_000012.11:g.6981932C>A, NG_011948.1:g.10349C>A, NG_013308.1:g.5590G>T, NM_032641.4:c.134G>T, NM_032641.3:c.134G>T, NM_001319670.2:c.134G>T, NM_001319670.1:c.134G>T, NM_001146316.2:c.134G>T, NM_001146316.1:c.134G>T, NW_003871083.2:g.74352C>A, NM_001146317.1:c.134G>T, NP_116030.1:p.Arg45Leu, NP_001306599.1:p.Arg45Leu, NP_001139788.1:p.Arg45Leu

Select item 138318797916.

rs1383187979 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTC>- [Show Flanks]
Chromosome:: 12:6872551 (GRCh38)
12:6981715 (GRCh37)
Canonical SPDI:: NC_000012.12:6872547:GTCAGTC:GTC
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872551_6872554del, NC_000012.11:g.6981715_6981718del, NG_011948.1:g.10132_10135del, NG_013308.1:g.5807_5810del, NM_032641.4:c.351_354del, NM_032641.3:c.351_354del, NM_001319670.2:c.351_354del, NM_001319670.1:c.351_354del, NM_001146316.2:c.351_354del, NM_001146316.1:c.351_354del, NW_003871083.2:g.74135_74138del, NM_001146317.1:c.351_354del, NP_116030.1:p.Asp118fs, NP_001306599.1:p.Asp118fs, NP_001139788.1:p.Asp118fs

Select item 138024721717.

rs1380247217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6872296 (GRCh38)
12:6981460 (GRCh37)
Canonical SPDI:: NC_000012.12:6872295:T:C
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6872296T>C, NC_000012.11:g.6981460T>C, NG_011948.1:g.9877T>C, NG_013308.1:g.6062A>G, NM_032641.4:c.606A>G, NM_032641.3:c.606A>G, NM_001319670.2:c.606A>G, NM_001319670.1:c.606A>G, NM_001146316.2:c.606A>G, NM_001146316.1:c.606A>G, NW_003871083.2:g.73880T>C, NM_001146317.1:c.606A>G

Select item 137907662918.

rs1379076629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:6872838 (GRCh38)
12:6982002 (GRCh37)
Canonical SPDI:: NC_000012.12:6872837:C:G,NC_000012.12:6872837:C:T
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872838C>G, NC_000012.12:g.6872838C>T, NC_000012.11:g.6982002C>G, NC_000012.11:g.6982002C>T, NG_011948.1:g.10419C>G, NG_011948.1:g.10419C>T, NG_013308.1:g.5520G>C, NG_013308.1:g.5520G>A, NM_032641.4:c.64G>C, NM_032641.4:c.64G>A, NM_032641.3:c.64G>C, NM_032641.3:c.64G>A, NM_001319670.2:c.64G>C, NM_001319670.2:c.64G>A, NM_001319670.1:c.64G>C, NM_001319670.1:c.64G>A, NM_001146316.2:c.64G>C, NM_001146316.2:c.64G>A, NM_001146316.1:c.64G>C, NM_001146316.1:c.64G>A, NW_003871083.2:g.74422C>G, NW_003871083.2:g.74422C>T, NM_001146317.1:c.64G>C, NM_001146317.1:c.64G>A, NP_116030.1:p.Asp22His, NP_116030.1:p.Asp22Asn, NP_001306599.1:p.Asp22His, NP_001306599.1:p.Asp22Asn, NP_001139788.1:p.Asp22His, NP_001139788.1:p.Asp22Asn

Select item 136082648619.

rs1360826486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:6871196 (GRCh38)
12:6980360 (GRCh37)
Canonical SPDI:: NC_000012.12:6871195:T:C,NC_000012.12:6871195:T:G
Gene:: TPI1 (Varview), SPSB2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_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_000012.12:g.6871196T>C, NC_000012.12:g.6871196T>G, NC_000012.11:g.6980360T>C, NC_000012.11:g.6980360T>G, NG_011948.1:g.8777T>C, NG_011948.1:g.8777T>G, NG_013308.1:g.7162A>G, NG_013308.1:g.7162A>C, NM_032641.4:c.788A>G, NM_032641.4:c.788A>C, NM_032641.3:c.788A>G, NM_032641.3:c.788A>C, NM_001319670.2:c.788A>G, NM_001319670.2:c.788A>C, NM_001319670.1:c.788A>G, NM_001319670.1:c.788A>C, NM_001146316.2:c.788A>G, NM_001146316.2:c.788A>C, NM_001146316.1:c.788A>G, NM_001146316.1:c.788A>C, NW_003871083.2:g.72780T>C, NW_003871083.2:g.72780T>G, NP_116030.1:p.Gln263Arg, NP_116030.1:p.Gln263Pro, NP_001306599.1:p.Gln263Arg, NP_001306599.1:p.Gln263Pro, NP_001139788.1:p.Gln263Arg, NP_001139788.1:p.Gln263Pro

Select item 135720095620.

rs1357200956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6872409 (GRCh38)
12:6981573 (GRCh37)
Canonical SPDI:: NC_000012.12:6872408:C:G
Gene:: SPSB2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872409C>G, NC_000012.11:g.6981573C>G, NG_011948.1:g.9990C>G, NG_013308.1:g.5949G>C, NM_032641.4:c.493G>C, NM_032641.3:c.493G>C, NM_001319670.2:c.493G>C, NM_001319670.1:c.493G>C, NM_001146316.2:c.493G>C, NM_001146316.1:c.493G>C, NW_003871083.2:g.73993C>G, NM_001146317.1:c.493G>C, NP_116030.1:p.Glu165Gln, NP_001306599.1:p.Glu165Gln, NP_001139788.1:p.Glu165Gln

dbSNP

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