SNP Links for Protein (Select 5174693) - SNP

Links from Protein

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Select item 14650219191.

rs1465021919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:153056556 (GRCh38)
1:153029032 (GRCh37)
Canonical SPDI:: NC_000001.11:153056555:G:A,NC_000001.11:153056555:G:T
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.153056556G>A, NC_000001.11:g.153056556G>T, NC_000001.10:g.153029032G>A, NC_000001.10:g.153029032G>T, NM_005988.3:c.180C>T, NM_005988.3:c.180C>A, NM_005988.2:c.180C>T, NM_005988.2:c.180C>A

Select item 14620095672.

rs1462009567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153056546 (GRCh38)
1:153029022 (GRCh37)
Canonical SPDI:: NC_000001.11:153056545:G:A
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153056546G>A, NC_000001.10:g.153029022G>A, NM_005988.3:c.190C>T, NM_005988.2:c.190C>T, NP_005979.1:p.Gln64Ter

Select item 14446803173.

rs1444680317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153056560 (GRCh38)
1:153029036 (GRCh37)
Canonical SPDI:: NC_000001.11:153056559:G:A
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.153056560G>A, NC_000001.10:g.153029036G>A, NM_005988.3:c.176C>T, NM_005988.2:c.176C>T, NP_005979.1:p.Pro59Leu

Select item 14238811044.

rs1423881104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153056542 (GRCh38)
1:153029018 (GRCh37)
Canonical SPDI:: NC_000001.11:153056541:G:A
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153056542G>A, NC_000001.10:g.153029018G>A, NM_005988.3:c.194C>T, NM_005988.2:c.194C>T, NP_005979.1:p.Ser65Leu

Select item 14113321995.

rs1411332199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153056673 (GRCh38)
1:153029149 (GRCh37)
Canonical SPDI:: NC_000001.11:153056672:T:C
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153056673T>C, NC_000001.10:g.153029149T>C, NM_005988.3:c.63A>G, NM_005988.2:c.63A>G

Select item 13994095556.

rs1399409555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153056680 (GRCh38)
1:153029156 (GRCh37)
Canonical SPDI:: NC_000001.11:153056679:G:A
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153056680G>A, NC_000001.10:g.153029156G>A, NM_005988.3:c.56C>T, NM_005988.2:c.56C>T, NP_005979.1:p.Pro19Leu

Select item 13763923607.

rs1376392360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTG>- [Show Flanks]
Chromosome:: 1:153056543 (GRCh38)
1:153029019 (GRCh37)
Canonical SPDI:: NC_000001.11:153056540:TGACTG:TG
Gene:: SPRR2A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153056543_153056546del, NC_000001.10:g.153029019_153029022del, NM_005988.3:c.192_195del, NM_005988.2:c.192_195del, NP_005979.1:p.Lys66fs

Select item 13670192108.

rs1367019210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153056564 (GRCh38)
1:153029040 (GRCh37)
Canonical SPDI:: NC_000001.11:153056563:T:C
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153056564T>C, NC_000001.10:g.153029040T>C, NM_005988.3:c.172A>G, NM_005988.2:c.172A>G, NP_005979.1:p.Thr58Ala

Select item 13474858279.

rs1347485827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153056517 (GRCh38)
1:153028993 (GRCh37)
Canonical SPDI:: NC_000001.11:153056516:T:C
Gene:: SPRR2A (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153056517T>C, NC_000001.10:g.153028993T>C, NM_005988.3:c.219A>G, NM_005988.2:c.219A>G

Select item 134619809910.

rs1346198099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:153056636 (GRCh38)
1:153029112 (GRCh37)
Canonical SPDI:: NC_000001.11:153056635:C:G,NC_000001.11:153056635:C:T
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153056636C>G, NC_000001.11:g.153056636C>T, NC_000001.10:g.153029112C>G, NC_000001.10:g.153029112C>T, NM_005988.3:c.100G>C, NM_005988.3:c.100G>A, NM_005988.2:c.100G>C, NM_005988.2:c.100G>A, NP_005979.1:p.Glu34Gln, NP_005979.1:p.Glu34Lys

Select item 134191614211.

rs1341916142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:153056640 (GRCh38)
1:153029116 (GRCh37)
Canonical SPDI:: NC_000001.11:153056639:G:A,NC_000001.11:153056639:G:T
Gene:: SPRR2A (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153056640G>A, NC_000001.11:g.153056640G>T, NC_000001.10:g.153029116G>A, NC_000001.10:g.153029116G>T, NM_005988.3:c.96C>T, NM_005988.3:c.96C>A, NM_005988.2:c.96C>T, NM_005988.2:c.96C>A, NP_005979.1:p.Cys32Ter

Select item 132921909412.

rs1329219094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153056667 (GRCh38)
1:153029143 (GRCh37)
Canonical SPDI:: NC_000001.11:153056666:G:A
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.153056667G>A, NC_000001.10:g.153029143G>A, NM_005988.3:c.69C>T, NM_005988.2:c.69C>T

Select item 132910616613.

rs1329106166 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:153056558 (GRCh38)
1:153029034 (GRCh37)
Canonical SPDI:: NC_000001.11:153056557:AA:
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.153056558_153056559del, NC_000001.10:g.153029034_153029035del, NM_005988.3:c.177_178del, NM_005988.2:c.177_178del, NP_005979.1:p.Ser60fs

Select item 130508928714.

rs1305089287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:153056633 (GRCh38)
1:153029109 (GRCh37)
Canonical SPDI:: NC_000001.11:153056632:G:T
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.153056633G>T, NC_000001.10:g.153029109G>T, NM_005988.3:c.103C>A, NM_005988.2:c.103C>A, NP_005979.1:p.Pro35Thr

Select item 128573150215.

rs1285731502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153056708 (GRCh38)
1:153029184 (GRCh37)
Canonical SPDI:: NC_000001.11:153056707:G:A
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153056708G>A, NC_000001.10:g.153029184G>A, NM_005988.3:c.28C>T, NM_005988.2:c.28C>T, NP_005979.1:p.Gln10Ter

Select item 127314033516.

rs1273140335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153056518 (GRCh38)
1:153028994 (GRCh37)
Canonical SPDI:: NC_000001.11:153056517:T:C
Gene:: SPRR2A (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153056518T>C, NC_000001.10:g.153028994T>C, NM_005988.3:c.218A>G, NM_005988.2:c.218A>G

Select item 126901148517.

rs1269011485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153056657 (GRCh38)
1:153029133 (GRCh37)
Canonical SPDI:: NC_000001.11:153056656:A:G
Gene:: SPRR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153056657A>G, NC_000001.10:g.153029133A>G, NM_005988.3:c.79T>C, NM_005988.2:c.79T>C, NP_005979.1:p.Cys27Arg

Select item 126887348318.

rs1268873483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153056639 (GRCh38)
1:153029115 (GRCh37)
Canonical SPDI:: NC_000001.11:153056638:G:A
Gene:: SPRR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.153056639G>A, NC_000001.10:g.153029115G>A, NM_005988.3:c.97C>T, NM_005988.2:c.97C>T, NP_005979.1:p.Pro33Ser

Select item 123671114919.

rs1236711149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153056684 (GRCh38)
1:153029160 (GRCh37)
Canonical SPDI:: NC_000001.11:153056683:A:G
Gene:: SPRR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153056684A>G, NC_000001.10:g.153029160A>G, NM_005988.3:c.52T>C, NM_005988.2:c.52T>C, NP_005979.1:p.Cys18Arg

Select item 122421027620.

rs1224210276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:153056651 (GRCh38)
1:153029127 (GRCh37)
Canonical SPDI:: NC_000001.11:153056650:G:T
Gene:: SPRR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153056651G>T, NC_000001.10:g.153029127G>T, NM_005988.3:c.85C>A, NM_005988.2:c.85C>A, NP_005979.1:p.Pro29Thr

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