SNP Links for Protein (Select 21314755) - SNP

Links from Protein

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Select item 14873040111.

rs1487304011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:50725259 (GRCh38)
15:51017456 (GRCh37)
Canonical SPDI:: NC_000015.10:50725258:G:C
Gene:: SPPL2A (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_000015.10:g.50725259G>C, NC_000015.9:g.51017456G>C, XM_005254722.4:c.1265C>G, XM_005254722.3:c.1265C>G, XM_005254722.2:c.1265C>G, XM_005254722.1:c.1265C>G, NM_032802.4:c.1211C>G, NM_032802.3:c.1211C>G, XM_017022680.2:c.1265C>G, XM_017022680.1:c.1265C>G, XM_017022681.2:c.1211C>G, XM_017022681.1:c.1211C>G, XP_005254779.1:p.Pro422Arg, NP_116191.2:p.Pro404Arg, XP_016878169.1:p.Pro422Arg, XP_016878170.1:p.Pro404Arg

Select item 14862289592.

rs1486228959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50765478 (GRCh38)
15:51057675 (GRCh37)
Canonical SPDI:: NC_000015.10:50765477:A:G
Gene:: SPPL2A (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=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50765478A>G, NC_000015.9:g.51057675A>G, XM_005254722.4:c.56T>C, XM_005254722.3:c.56T>C, XM_005254722.2:c.56T>C, XM_005254722.1:c.56T>C, NM_032802.4:c.56T>C, NM_032802.3:c.56T>C, XM_017022680.2:c.56T>C, XM_017022680.1:c.56T>C, XM_017022681.2:c.56T>C, XM_017022681.1:c.56T>C, XP_005254779.1:p.Leu19Pro, NP_116191.2:p.Leu19Pro, XP_016878169.1:p.Leu19Pro, XP_016878170.1:p.Leu19Pro

Select item 14842606023.

rs1484260602 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 15:50739780 (GRCh38)
15:51031977 (GRCh37)
Canonical SPDI:: NC_000015.10:50739776:CTTCTT:CTT
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50739777CTT[1], NC_000015.9:g.51031974CTT[1], XM_005254722.4:c.631AAG[1], XM_005254722.3:c.631AAG[1], XM_005254722.2:c.631AAG[1], XM_005254722.1:c.631AAG[1], NM_032802.4:c.631AAG[1], NM_032802.3:c.631AAG[1], XM_017022680.2:c.631AAG[1], XM_017022680.1:c.631AAG[1], XM_017022681.2:c.631AAG[1], XM_017022681.1:c.631AAG[1], XP_005254779.1:p.Lys212del, NP_116191.2:p.Lys212del, XP_016878169.1:p.Lys212del, XP_016878170.1:p.Lys212del

Select item 14818725704.

rs1481872570 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 15:50731013 (GRCh38)
15:51023210 (GRCh37)
Canonical SPDI:: NC_000015.10:50731006:GAGGAGGAG:GAGGAG
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50731007GAG[2], NC_000015.9:g.51023204GAG[2], XM_005254722.4:c.1039CTC[2], XM_005254722.3:c.1039CTC[2], XM_005254722.2:c.1039CTC[2], XM_005254722.1:c.1039CTC[2], NM_032802.4:c.1039CTC[2], NM_032802.3:c.1039CTC[2], XM_017022680.2:c.1039CTC[2], XM_017022680.1:c.1039CTC[2], XM_017022681.2:c.1039CTC[2], XM_017022681.1:c.1039CTC[2], XP_005254779.1:p.Leu349del, NP_116191.2:p.Leu349del, XP_016878169.1:p.Leu349del, XP_016878170.1:p.Leu349del

Select item 14793573935.

rs1479357393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:50726325 (GRCh38)
15:51018522 (GRCh37)
Canonical SPDI:: NC_000015.10:50726324:T:G
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.50726325T>G, NC_000015.9:g.51018522T>G, XM_005254722.4:c.1142A>C, XM_005254722.3:c.1142A>C, XM_005254722.2:c.1142A>C, XM_005254722.1:c.1142A>C, NM_032802.4:c.1142A>C, NM_032802.3:c.1142A>C, XM_017022680.2:c.1142A>C, XM_017022680.1:c.1142A>C, XM_017022681.2:c.1142A>C, XM_017022681.1:c.1142A>C, XP_005254779.1:p.Glu381Ala, NP_116191.2:p.Glu381Ala, XP_016878169.1:p.Glu381Ala, XP_016878170.1:p.Glu381Ala

Select item 14789014596.

rs1478901459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50747607 (GRCh38)
15:51039804 (GRCh37)
Canonical SPDI:: NC_000015.10:50747606:C:T
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50747607C>T, NC_000015.9:g.51039804C>T, XM_005254722.4:c.472G>A, XM_005254722.3:c.472G>A, XM_005254722.2:c.472G>A, XM_005254722.1:c.472G>A, NM_032802.4:c.472G>A, NM_032802.3:c.472G>A, XM_017022680.2:c.472G>A, XM_017022680.1:c.472G>A, XM_017022681.2:c.472G>A, XM_017022681.1:c.472G>A, XP_005254779.1:p.Val158Met, NP_116191.2:p.Val158Met, XP_016878169.1:p.Val158Met, XP_016878170.1:p.Val158Met

Select item 14786761917.

rs1478676191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:50707817 (GRCh38)
15:51000014 (GRCh37)
Canonical SPDI:: NC_000015.10:50707816:G:A,NC_000015.10:50707816:G:C
Gene:: SPPL2A (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,stop_gained,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50707817G>A, NC_000015.10:g.50707817G>C, NC_000015.9:g.51000014G>A, NC_000015.9:g.51000014G>C, XM_005254722.4:c.1600C>T, XM_005254722.4:c.1600C>G, XM_005254722.3:c.1600C>T, XM_005254722.3:c.1600C>G, XM_005254722.2:c.1600C>T, XM_005254722.2:c.1600C>G, XM_005254722.1:c.1600C>T, XM_005254722.1:c.1600C>G, NM_032802.4:c.1546C>T, NM_032802.4:c.1546C>G, NM_032802.3:c.1546C>T, NM_032802.3:c.1546C>G, XM_017022680.2:c.*26C>T, XM_017022680.2:c.*26C>G, XM_017022680.1:c.*26C>T, XM_017022680.1:c.*26C>G, XM_017022681.2:c.*26C>T, XM_017022681.2:c.*26C>G, XM_017022681.1:c.*26C>T, XM_017022681.1:c.*26C>G, XP_005254779.1:p.Gln534Ter, XP_005254779.1:p.Gln534Glu, NP_116191.2:p.Gln516Ter, NP_116191.2:p.Gln516Glu

Select item 14776506498.

rs1477650649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50748163 (GRCh38)
15:51040360 (GRCh37)
Canonical SPDI:: NC_000015.10:50748162:T:C
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.50748163T>C, NC_000015.9:g.51040360T>C, XM_005254722.4:c.400A>G, XM_005254722.3:c.400A>G, XM_005254722.2:c.400A>G, XM_005254722.1:c.400A>G, NM_032802.4:c.400A>G, NM_032802.3:c.400A>G, XM_017022680.2:c.400A>G, XM_017022680.1:c.400A>G, XM_017022681.2:c.400A>G, XM_017022681.1:c.400A>G, XP_005254779.1:p.Lys134Glu, NP_116191.2:p.Lys134Glu, XP_016878169.1:p.Lys134Glu, XP_016878170.1:p.Lys134Glu

Select item 14755030539.

rs1475503053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50722175 (GRCh38)
15:51014372 (GRCh37)
Canonical SPDI:: NC_000015.10:50722174:A:G
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50722175A>G, NC_000015.9:g.51014372A>G, XM_005254722.4:c.1330T>C, XM_005254722.3:c.1330T>C, XM_005254722.2:c.1330T>C, XM_005254722.1:c.1330T>C, NM_032802.4:c.1276T>C, NM_032802.3:c.1276T>C, XM_017022680.2:c.1330T>C, XM_017022680.1:c.1330T>C, XM_017022681.2:c.1276T>C, XM_017022681.1:c.1276T>C, XP_005254779.1:p.Phe444Leu, NP_116191.2:p.Phe426Leu, XP_016878169.1:p.Phe444Leu, XP_016878170.1:p.Phe426Leu

Select item 147376601510.

rs1473766015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50739717 (GRCh38)
15:51031914 (GRCh37)
Canonical SPDI:: NC_000015.10:50739716:A:G
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50739717A>G, NC_000015.9:g.51031914A>G, XM_005254722.4:c.696T>C, XM_005254722.3:c.696T>C, XM_005254722.2:c.696T>C, XM_005254722.1:c.696T>C, NM_032802.4:c.696T>C, NM_032802.3:c.696T>C, XM_017022680.2:c.696T>C, XM_017022680.1:c.696T>C, XM_017022681.2:c.696T>C, XM_017022681.1:c.696T>C

Select item 147213130611.

rs1472131306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50736179 (GRCh38)
15:51028376 (GRCh37)
Canonical SPDI:: NC_000015.10:50736178:A:G
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000141/5 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.50736179A>G, NC_000015.9:g.51028376A>G, XM_005254722.4:c.854T>C, XM_005254722.3:c.854T>C, XM_005254722.2:c.854T>C, XM_005254722.1:c.854T>C, NM_032802.4:c.854T>C, NM_032802.3:c.854T>C, XM_017022680.2:c.854T>C, XM_017022680.1:c.854T>C, XM_017022681.2:c.854T>C, XM_017022681.1:c.854T>C, XP_005254779.1:p.Met285Thr, NP_116191.2:p.Met285Thr, XP_016878169.1:p.Met285Thr, XP_016878170.1:p.Met285Thr

Select item 147050537112.

rs1470505371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:50719954 (GRCh38)
15:51012151 (GRCh37)
Canonical SPDI:: NC_000015.10:50719953:C:G
Gene:: SPPL2A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50719954C>G, NC_000015.9:g.51012151C>G, XM_005254722.4:c.1528G>C, XM_005254722.3:c.1528G>C, XM_005254722.2:c.1528G>C, XM_005254722.1:c.1528G>C, NM_032802.4:c.1474G>C, NM_032802.3:c.1474G>C, XP_005254779.1:p.Gly510Arg, NP_116191.2:p.Gly492Arg

Select item 146946936513.

rs1469469365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50725278 (GRCh38)
15:51017475 (GRCh37)
Canonical SPDI:: NC_000015.10:50725277:T:C
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50725278T>C, NC_000015.9:g.51017475T>C, XM_005254722.4:c.1246A>G, XM_005254722.3:c.1246A>G, XM_005254722.2:c.1246A>G, XM_005254722.1:c.1246A>G, NM_032802.4:c.1192A>G, NM_032802.3:c.1192A>G, XM_017022680.2:c.1246A>G, XM_017022680.1:c.1246A>G, XM_017022681.2:c.1192A>G, XM_017022681.1:c.1192A>G, XP_005254779.1:p.Met416Val, NP_116191.2:p.Met398Val, XP_016878169.1:p.Met416Val, XP_016878170.1:p.Met398Val

Select item 146494211714.

rs1464942117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50747590 (GRCh38)
15:51039787 (GRCh37)
Canonical SPDI:: NC_000015.10:50747589:T:C
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50747590T>C, NC_000015.9:g.51039787T>C, XM_005254722.4:c.489A>G, XM_005254722.3:c.489A>G, XM_005254722.2:c.489A>G, XM_005254722.1:c.489A>G, NM_032802.4:c.489A>G, NM_032802.3:c.489A>G, XM_017022680.2:c.489A>G, XM_017022680.1:c.489A>G, XM_017022681.2:c.489A>G, XM_017022681.1:c.489A>G

Select item 146157590715.

rs1461575907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50707832 (GRCh38)
15:51000029 (GRCh37)
Canonical SPDI:: NC_000015.10:50707831:C:T
Gene:: SPPL2A (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50707832C>T, NC_000015.9:g.51000029C>T, XM_005254722.4:c.1585G>A, XM_005254722.3:c.1585G>A, XM_005254722.2:c.1585G>A, XM_005254722.1:c.1585G>A, NM_032802.4:c.1531G>A, NM_032802.3:c.1531G>A, XM_017022680.2:c.*11G>A, XM_017022680.1:c.*11G>A, XM_017022681.2:c.*11G>A, XM_017022681.1:c.*11G>A, XP_005254779.1:p.Val529Met, NP_116191.2:p.Val511Met

Select item 146045941416.

rs1460459414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50765500 (GRCh38)
15:51057697 (GRCh37)
Canonical SPDI:: NC_000015.10:50765499:C:T
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.50765500C>T, NC_000015.9:g.51057697C>T, XM_005254722.4:c.34G>A, XM_005254722.3:c.34G>A, XM_005254722.2:c.34G>A, XM_005254722.1:c.34G>A, NM_032802.4:c.34G>A, NM_032802.3:c.34G>A, XM_017022680.2:c.34G>A, XM_017022680.1:c.34G>A, XM_017022681.2:c.34G>A, XM_017022681.1:c.34G>A, XP_005254779.1:p.Ala12Thr, NP_116191.2:p.Ala12Thr, XP_016878169.1:p.Ala12Thr, XP_016878170.1:p.Ala12Thr

Select item 145802918617.

rs1458029186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50736107 (GRCh38)
15:51028304 (GRCh37)
Canonical SPDI:: NC_000015.10:50736106:T:C
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50736107T>C, NC_000015.9:g.51028304T>C, XM_005254722.4:c.926A>G, XM_005254722.3:c.926A>G, XM_005254722.2:c.926A>G, XM_005254722.1:c.926A>G, NM_032802.4:c.926A>G, NM_032802.3:c.926A>G, XM_017022680.2:c.926A>G, XM_017022680.1:c.926A>G, XM_017022681.2:c.926A>G, XM_017022681.1:c.926A>G, XP_005254779.1:p.Glu309Gly, NP_116191.2:p.Glu309Gly, XP_016878169.1:p.Glu309Gly, XP_016878170.1:p.Glu309Gly

Select item 145694178618.

rs1456941786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50730972 (GRCh38)
15:51023169 (GRCh37)
Canonical SPDI:: NC_000015.10:50730971:A:G
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50730972A>G, NC_000015.9:g.51023169A>G, XM_005254722.4:c.1082T>C, XM_005254722.3:c.1082T>C, XM_005254722.2:c.1082T>C, XM_005254722.1:c.1082T>C, NM_032802.4:c.1082T>C, NM_032802.3:c.1082T>C, XM_017022680.2:c.1082T>C, XM_017022680.1:c.1082T>C, XM_017022681.2:c.1082T>C, XM_017022681.1:c.1082T>C, XP_005254779.1:p.Ile361Thr, NP_116191.2:p.Ile361Thr, XP_016878169.1:p.Ile361Thr, XP_016878170.1:p.Ile361Thr

Select item 145577506219.

rs1455775062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50736177 (GRCh38)
15:51028374 (GRCh37)
Canonical SPDI:: NC_000015.10:50736176:C:T
Gene:: SPPL2A (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)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.50736177C>T, NC_000015.9:g.51028374C>T, XM_005254722.4:c.856G>A, XM_005254722.3:c.856G>A, XM_005254722.2:c.856G>A, XM_005254722.1:c.856G>A, NM_032802.4:c.856G>A, NM_032802.3:c.856G>A, XM_017022680.2:c.856G>A, XM_017022680.1:c.856G>A, XM_017022681.2:c.856G>A, XM_017022681.1:c.856G>A, XP_005254779.1:p.Glu286Lys, NP_116191.2:p.Glu286Lys, XP_016878169.1:p.Glu286Lys, XP_016878170.1:p.Glu286Lys

Select item 145547948220.

rs1455479482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:50732672 (GRCh38)
15:51024869 (GRCh37)
Canonical SPDI:: NC_000015.10:50732671:A:C
Gene:: SPPL2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50732672A>C, NC_000015.9:g.51024869A>C, XM_005254722.4:c.945T>G, XM_005254722.3:c.945T>G, XM_005254722.2:c.945T>G, XM_005254722.1:c.945T>G, NM_032802.4:c.945T>G, NM_032802.3:c.945T>G, XM_017022680.2:c.945T>G, XM_017022680.1:c.945T>G, XM_017022681.2:c.945T>G, XM_017022681.1:c.945T>G, XP_005254779.1:p.Ile315Met, NP_116191.2:p.Ile315Met, XP_016878169.1:p.Ile315Met, XP_016878170.1:p.Ile315Met

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