SNP Links for Protein (Select 1060099273) - SNP

Links from Protein

Items: 1 to 20 of 105

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Select item 14681455191.

rs1468145519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59155145 (GRCh38)
17:57232506 (GRCh37)
Canonical SPDI:: NC_000017.11:59155144:T:C
Gene:: PRR11 (Varview), SKA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59155145T>C, NC_000017.10:g.57232506T>C, NM_182620.4:c.19A>G, NM_182620.3:c.19A>G, NM_001330399.2:c.19A>G, NM_001330399.1:c.19A>G, NM_001100595.2:c.-62A>G, NM_001100595.1:c.-62A>G, NP_872426.1:p.Lys7Glu, NP_001317328.1:p.Lys7Glu

Select item 14672004692.

rs1467200469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:59119485 (GRCh38)
17:57196846 (GRCh37)
Canonical SPDI:: NC_000017.11:59119484:A:C
Gene:: SKA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59119485A>C, NC_000017.10:g.57196846A>C, NM_182620.4:c.131T>G, NM_182620.3:c.131T>G, NM_001330399.2:c.131T>G, NM_001330399.1:c.131T>G, NP_872426.1:p.Val44Gly, NP_001317328.1:p.Val44Gly

Select item 14529324413.

rs1452932441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59119387 (GRCh38)
17:57196748 (GRCh37)
Canonical SPDI:: NC_000017.11:59119386:G:A
Gene:: SKA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.59119387G>A, NC_000017.10:g.57196748G>A, NM_182620.4:c.229C>T, NM_182620.3:c.229C>T, NM_001330399.2:c.229C>T, NM_001330399.1:c.229C>T, NP_872426.1:p.Arg77Cys, NP_001317328.1:p.Arg77Cys

Select item 14459105894.

rs1445910589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59119445 (GRCh38)
17:57196806 (GRCh37)
Canonical SPDI:: NC_000017.11:59119444:A:G
Gene:: SKA2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.59119445A>G, NC_000017.10:g.57196806A>G, NM_182620.4:c.171T>C, NM_182620.3:c.171T>C, NM_001330399.2:c.171T>C, NM_001330399.1:c.171T>C

Select item 14433668895.

rs1443366889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59131306 (GRCh38)
17:57208667 (GRCh37)
Canonical SPDI:: NC_000017.11:59131305:G:C
Gene:: SKA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/6 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59131306G>C, NC_000017.10:g.57208667G>C, NM_182620.4:c.95C>G, NM_182620.3:c.95C>G, NM_001330399.2:c.95C>G, NM_001330399.1:c.95C>G, NM_001100595.2:c.190C>G, NM_001100595.1:c.190C>G, NP_872426.1:p.Thr32Ser, NP_001317328.1:p.Thr32Ser, NP_001094065.1:p.Leu64Val

Select item 14373546126.

rs1437354612 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 17:59119410 (GRCh38)
17:57196771 (GRCh37)
Canonical SPDI:: NC_000017.11:59119407:CAACA:CA
Gene:: SKA2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59119410_59119412del, NC_000017.10:g.57196771_57196773del, NM_182620.4:c.206_208del, NM_182620.3:c.206_208del, NM_001330399.2:c.206_208del, NM_001330399.1:c.206_208del, NP_872426.1:p.Val69del, NP_001317328.1:p.Val69del

Select item 14217131257.

rs1421713125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59119400 (GRCh38)
17:57196761 (GRCh37)
Canonical SPDI:: NC_000017.11:59119399:T:C
Gene:: SKA2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59119400T>C, NC_000017.10:g.57196761T>C, NM_182620.4:c.216A>G, NM_182620.3:c.216A>G, NM_001330399.2:c.216A>G, NM_001330399.1:c.216A>G

Select item 14167968958.

rs1416796895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59119323 (GRCh38)
17:57196684 (GRCh37)
Canonical SPDI:: NC_000017.11:59119322:A:G
Gene:: SKA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59119323A>G, NC_000017.10:g.57196684A>G, NM_182620.4:c.293T>C, NM_182620.3:c.293T>C, NM_001330399.2:c.293T>C, NM_001330399.1:c.293T>C, NP_872426.1:p.Leu98Pro, NP_001317328.1:p.Leu98Pro

Select item 14150470869.

rs1415047086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59155154 (GRCh38)
17:57232515 (GRCh37)
Canonical SPDI:: NC_000017.11:59155153:C:T
Gene:: PRR11 (Varview), SKA2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59155154C>T, NC_000017.10:g.57232515C>T, NM_182620.4:c.10G>A, NM_182620.3:c.10G>A, NM_001330399.2:c.10G>A, NM_001330399.1:c.10G>A, NM_001100595.2:c.-71G>A, NM_001100595.1:c.-71G>A, NP_872426.1:p.Glu4Lys, NP_001317328.1:p.Glu4Lys

Select item 141488640210.

rs1414886402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59131344 (GRCh38)
17:57208705 (GRCh37)
Canonical SPDI:: NC_000017.11:59131343:C:T
Gene:: SKA2 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59131344C>T, NC_000017.10:g.57208705C>T, NM_182620.4:c.57G>A, NM_182620.3:c.57G>A, NM_001330399.2:c.57G>A, NM_001330399.1:c.57G>A, NM_001100595.2:c.152G>A, NM_001100595.1:c.152G>A, NP_001094065.1:p.Trp51Ter

Select item 140761917311.

rs1407619173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59119478 (GRCh38)
17:57196839 (GRCh37)
Canonical SPDI:: NC_000017.11:59119477:G:A
Gene:: SKA2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59119478G>A, NC_000017.10:g.57196839G>A, NM_182620.4:c.138C>T, NM_182620.3:c.138C>T, NM_001330399.2:c.138C>T, NM_001330399.1:c.138C>T

Select item 140600396812.

rs1406003968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59119489 (GRCh38)
17:57196850 (GRCh37)
Canonical SPDI:: NC_000017.11:59119488:G:C
Gene:: SKA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59119489G>C, NC_000017.10:g.57196850G>C, NM_182620.4:c.127C>G, NM_182620.3:c.127C>G, NM_001330399.2:c.127C>G, NM_001330399.1:c.127C>G, NP_872426.1:p.Pro43Ala, NP_001317328.1:p.Pro43Ala

Select item 139543344913.

rs1395433449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59131343 (GRCh38)
17:57208704 (GRCh37)
Canonical SPDI:: NC_000017.11:59131342:C:T
Gene:: SKA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
HGVS:: NC_000017.11:g.59131343C>T, NC_000017.10:g.57208704C>T, NM_182620.4:c.58G>A, NM_182620.3:c.58G>A, NM_001330399.2:c.58G>A, NM_001330399.1:c.58G>A, NM_001100595.2:c.153G>A, NM_001100595.1:c.153G>A, NP_872426.1:p.Asp20Asn, NP_001317328.1:p.Asp20Asn, NP_001094065.1:p.Trp51Ter

Select item 138134514814.

rs1381345148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:59119395 (GRCh38)
17:57196756 (GRCh37)
Canonical SPDI:: NC_000017.11:59119394:C:G,NC_000017.11:59119394:C:T
Gene:: SKA2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59119395C>G, NC_000017.11:g.59119395C>T, NC_000017.10:g.57196756C>G, NC_000017.10:g.57196756C>T, NM_182620.4:c.221G>C, NM_182620.4:c.221G>A, NM_182620.3:c.221G>C, NM_182620.3:c.221G>A, NM_001330399.2:c.221G>C, NM_001330399.2:c.221G>A, NM_001330399.1:c.221G>C, NM_001330399.1:c.221G>A, NP_872426.1:p.Ser74Thr, NP_872426.1:p.Ser74Asn, NP_001317328.1:p.Ser74Thr, NP_001317328.1:p.Ser74Asn

Select item 137328228515.

rs1373282285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59131365 (GRCh38)
17:57208726 (GRCh37)
Canonical SPDI:: NC_000017.11:59131364:G:A
Gene:: SKA2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.59131365G>A, NC_000017.10:g.57208726G>A, NM_182620.4:c.36C>T, NM_182620.3:c.36C>T, NM_001330399.2:c.36C>T, NM_001330399.1:c.36C>T, NM_001100595.2:c.131C>T, NM_001100595.1:c.131C>T, NP_001094065.1:p.Ser44Phe

Select item 136278352916.

rs1362783529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59155157 (GRCh38)
17:57232518 (GRCh37)
Canonical SPDI:: NC_000017.11:59155156:C:T
Gene:: PRR11 (Varview), SKA2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59155157C>T, NC_000017.10:g.57232518C>T, NM_182620.4:c.7G>A, NM_182620.3:c.7G>A, NM_001330399.2:c.7G>A, NM_001330399.1:c.7G>A, NM_001100595.2:c.-74G>A, NM_001100595.1:c.-74G>A, NP_872426.1:p.Ala3Thr, NP_001317328.1:p.Ala3Thr

Select item 135417352417.

rs1354173524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59119437 (GRCh38)
17:57196798 (GRCh37)
Canonical SPDI:: NC_000017.11:59119436:A:G
Gene:: SKA2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.59119437A>G, NC_000017.10:g.57196798A>G, NM_182620.4:c.179T>C, NM_182620.3:c.179T>C, NM_001330399.2:c.179T>C, NM_001330399.1:c.179T>C, NP_872426.1:p.Leu60Ser, NP_001317328.1:p.Leu60Ser

Select item 135101256218.

rs1351012562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59119413 (GRCh38)
17:57196774 (GRCh37)
Canonical SPDI:: NC_000017.11:59119412:G:A
Gene:: SKA2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59119413G>A, NC_000017.10:g.57196774G>A, NM_182620.4:c.203C>T, NM_182620.3:c.203C>T, NM_001330399.2:c.203C>T, NM_001330399.1:c.203C>T, NP_872426.1:p.Ala68Val, NP_001317328.1:p.Ala68Val

Select item 133720549519.

rs1337205495 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:59119414 (GRCh38)
17:57196775 (GRCh37)
Canonical SPDI:: NC_000017.11:59119413:C:
Gene:: SKA2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59119414del, NC_000017.10:g.57196775del, NM_182620.4:c.202del, NM_182620.3:c.202del, NM_001330399.2:c.202del, NM_001330399.1:c.202del, NP_872426.1:p.Ala68fs, NP_001317328.1:p.Ala68fs

Select item 132641290420.

rs1326412904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:59155146 (GRCh38)
17:57232507 (GRCh37)
Canonical SPDI:: NC_000017.11:59155145:A:C,NC_000017.11:59155145:A:T
Gene:: PRR11 (Varview), SKA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59155146A>C, NC_000017.11:g.59155146A>T, NC_000017.10:g.57232507A>C, NC_000017.10:g.57232507A>T, NM_182620.4:c.18T>G, NM_182620.4:c.18T>A, NM_182620.3:c.18T>G, NM_182620.3:c.18T>A, NM_001330399.2:c.18T>G, NM_001330399.2:c.18T>A, NM_001330399.1:c.18T>G, NM_001330399.1:c.18T>A, NM_001100595.2:c.-63T>G, NM_001100595.2:c.-63T>A, NM_001100595.1:c.-63T>G, NM_001100595.1:c.-63T>A, NP_872426.1:p.Asp6Glu, NP_872426.1:p.Asp6Glu, NP_001317328.1:p.Asp6Glu, NP_001317328.1:p.Asp6Glu

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