SNP Links for Protein (Select 767973231) - SNP

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Links from Protein

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Select item 14899727921.

rs1489972792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120810825 (GRCh38)
12:121248628 (GRCh37)
Canonical SPDI:: NC_000012.12:120810824:C:T
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.120810825C>T, NC_000012.11:g.121248628C>T, NM_139015.5:c.85G>A, NM_139015.4:c.85G>A, XM_011537925.3:c.85G>A, XM_011537925.2:c.85G>A, XM_011537925.1:c.85G>A, NP_620584.2:p.Val29Ile, XP_011536227.1:p.Val29Ile

Select item 14872039312.

rs1487203931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120767410 (GRCh38)
12:121205213 (GRCh37)
Canonical SPDI:: NC_000012.12:120767409:G:A
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120767410G>A, NC_000012.11:g.121205213G>A, NM_139015.5:c.957C>T, NM_139015.4:c.957C>T, XM_011537925.3:c.957C>T, XM_011537925.2:c.957C>T, XM_011537925.1:c.957C>T

Select item 14868310223.

rs1486831022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120768380 (GRCh38)
12:121206183 (GRCh37)
Canonical SPDI:: NC_000012.12:120768379:T:C
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120768380T>C, NC_000012.11:g.121206183T>C, NM_139015.5:c.718A>G, NM_139015.4:c.718A>G, XM_011537925.3:c.718A>G, XM_011537925.2:c.718A>G, XM_011537925.1:c.718A>G, NP_620584.2:p.Asn240Asp, XP_011536227.1:p.Asn240Asp

Select item 14851967364.

rs1485196736 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:120782716 (GRCh38)
12:121220519 (GRCh37)
Canonical SPDI:: NC_000012.12:120782710:AGAGAGA:AGAGA
Gene:: SPPL3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120782712GA[2], NC_000012.11:g.121220515GA[2], NM_139015.5:c.445_446del, NM_139015.4:c.445_446del, XM_011537925.3:c.445_446del, XM_011537925.2:c.445_446del, XM_011537925.1:c.445_446del, NP_620584.2:p.Leu149fs, XP_011536227.1:p.Leu149fs

Select item 14806417735.

rs1480641773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120766337 (GRCh38)
12:121204140 (GRCh37)
Canonical SPDI:: NC_000012.12:120766336:G:A
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120766337G>A, NC_000012.11:g.121204140G>A, NM_139015.5:c.1009C>T, NM_139015.4:c.1009C>T, XM_011537925.3:c.1009C>T, XM_011537925.2:c.1009C>T, XM_011537925.1:c.1009C>T, NP_620584.2:p.Arg337Trp, XP_011536227.1:p.Arg337Trp

Select item 14790186256.

rs1479018625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120769004 (GRCh38)
12:121206807 (GRCh37)
Canonical SPDI:: NC_000012.12:120769003:G:A
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120769004G>A, NC_000012.11:g.121206807G>A, NM_139015.5:c.558C>T, NM_139015.4:c.558C>T, XM_011537925.3:c.558C>T, XM_011537925.2:c.558C>T, XM_011537925.1:c.558C>T

Select item 14684061007.

rs1468406100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120768998 (GRCh38)
12:121206801 (GRCh37)
Canonical SPDI:: NC_000012.12:120768997:G:A
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120768998G>A, NC_000012.11:g.121206801G>A, NM_139015.5:c.564C>T, NM_139015.4:c.564C>T, XM_011537925.3:c.564C>T, XM_011537925.2:c.564C>T, XM_011537925.1:c.564C>T

Select item 14677099478.

rs1467709947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120791517 (GRCh38)
12:121229320 (GRCh37)
Canonical SPDI:: NC_000012.12:120791516:C:T
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.120791517C>T, NC_000012.11:g.121229320C>T, NM_139015.5:c.142G>A, NM_139015.4:c.142G>A, XM_011537925.3:c.142G>A, XM_011537925.2:c.142G>A, XM_011537925.1:c.142G>A, NP_620584.2:p.Asp48Asn, XP_011536227.1:p.Asp48Asn

Select item 14651726779.

rs1465172677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120767434 (GRCh38)
12:121205237 (GRCh37)
Canonical SPDI:: NC_000012.12:120767433:C:G
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120767434C>G, NC_000012.11:g.121205237C>G, NM_139015.5:c.933G>C, NM_139015.4:c.933G>C, XM_011537925.3:c.933G>C, XM_011537925.2:c.933G>C, XM_011537925.1:c.933G>C, NP_620584.2:p.Lys311Asn, XP_011536227.1:p.Lys311Asn

Select item 146372606710.

rs1463726067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120782744 (GRCh38)
12:121220547 (GRCh37)
Canonical SPDI:: NC_000012.12:120782743:C:T
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120782744C>T, NC_000012.11:g.121220547C>T, NM_139015.5:c.413G>A, NM_139015.4:c.413G>A, XM_011537925.3:c.413G>A, XM_011537925.2:c.413G>A, XM_011537925.1:c.413G>A, NP_620584.2:p.Arg138His, XP_011536227.1:p.Arg138His

Select item 145717969511.

rs1457179695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:120766270 (GRCh38)
12:121204073 (GRCh37)
Canonical SPDI:: NC_000012.12:120766269:T:A
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.120766270T>A, NC_000012.11:g.121204073T>A, NM_139015.5:c.1076A>T, NM_139015.4:c.1076A>T, XM_011537925.3:c.1076A>T, XM_011537925.2:c.1076A>T, XM_011537925.1:c.1076A>T, NP_620584.2:p.Tyr359Phe, XP_011536227.1:p.Tyr359Phe

Select item 145473024412.

rs1454730244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:120767455 (GRCh38)
12:121205258 (GRCh37)
Canonical SPDI:: NC_000012.12:120767454:G:T
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120767455G>T, NC_000012.11:g.121205258G>T, NM_139015.5:c.912C>A, NM_139015.4:c.912C>A, XM_011537925.3:c.912C>A, XM_011537925.2:c.912C>A, XM_011537925.1:c.912C>A, NP_620584.2:p.Asn304Lys, XP_011536227.1:p.Asn304Lys

Select item 144677811313.

rs1446778113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120784479 (GRCh38)
12:121222282 (GRCh37)
Canonical SPDI:: NC_000012.12:120784478:G:A
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120784479G>A, NC_000012.11:g.121222282G>A, NM_139015.5:c.305C>T, NM_139015.4:c.305C>T, XM_011537925.3:c.305C>T, XM_011537925.2:c.305C>T, XM_011537925.1:c.305C>T, NP_620584.2:p.Thr102Ile, XP_011536227.1:p.Thr102Ile

Select item 144626041014.

rs1446260410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120767582 (GRCh38)
12:121205385 (GRCh37)
Canonical SPDI:: NC_000012.12:120767581:C:G
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120767582C>G, NC_000012.11:g.121205385C>G, NM_139015.5:c.785G>C, NM_139015.4:c.785G>C, XM_011537925.3:c.785G>C, XM_011537925.2:c.785G>C, XM_011537925.1:c.785G>C, NP_620584.2:p.Ser262Thr, XP_011536227.1:p.Ser262Thr

Select item 144096548115.

rs1440965481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:120768371 (GRCh38)
12:121206174 (GRCh37)
Canonical SPDI:: NC_000012.12:120768370:G:A,NC_000012.12:120768370:G:C
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.120768371G>A, NC_000012.12:g.120768371G>C, NC_000012.11:g.121206174G>A, NC_000012.11:g.121206174G>C, NM_139015.5:c.727C>T, NM_139015.5:c.727C>G, NM_139015.4:c.727C>T, NM_139015.4:c.727C>G, XM_011537925.3:c.727C>T, XM_011537925.3:c.727C>G, XM_011537925.2:c.727C>T, XM_011537925.2:c.727C>G, XM_011537925.1:c.727C>T, XM_011537925.1:c.727C>G, NP_620584.2:p.Arg243Cys, NP_620584.2:p.Arg243Gly, XP_011536227.1:p.Arg243Cys, XP_011536227.1:p.Arg243Gly

Select item 143753493716.

rs1437534937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120784556 (GRCh38)
12:121222359 (GRCh37)
Canonical SPDI:: NC_000012.12:120784555:A:G
Gene:: SPPL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.120784556A>G, NC_000012.11:g.121222359A>G, NM_139015.5:c.228T>C, NM_139015.4:c.228T>C, XM_011537925.3:c.228T>C, XM_011537925.2:c.228T>C, XM_011537925.1:c.228T>C

Select item 143700073217.

rs1437000732 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 12:120783721 (GRCh38)
12:121221524 (GRCh37)
Canonical SPDI:: NC_000012.12:120783716:GGAGGAG:GGAG
Gene:: SPPL3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAG=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120783718GAG[1], NC_000012.11:g.121221521GAG[1], NM_139015.5:c.341TCC[1], NM_139015.4:c.341TCC[1], XM_011537925.3:c.341TCC[1], XM_011537925.2:c.341TCC[1], XM_011537925.1:c.341TCC[1], NP_620584.2:p.Leu115del, XP_011536227.1:p.Leu115del

Select item 143627252318.

rs1436272523 [Homo sapiens]

Variant type:: DEL
Alleles:: TACTTCCAG>- [Show Flanks]
Chromosome:: 12:120765002 (GRCh38)
12:121202805 (GRCh37)
Canonical SPDI:: NC_000012.12:120765001:TACTTCCAG:
Gene:: SPPL3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000012.12:g.120765002_120765010del, NC_000012.11:g.121202805_121202813del, NM_139015.5:c.1144_1152del, NM_139015.4:c.1144_1152del, XM_011537925.3:c.1144_1152del, XM_011537925.2:c.1144_1152del, XM_011537925.1:c.1144_1152del, NP_620584.2:p.Leu382_Val384del, XP_011536227.1:p.Leu382_Val384del

Select item 141563703519.

rs1415637035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120810837 (GRCh38)
12:121248640 (GRCh37)
Canonical SPDI:: NC_000012.12:120810836:T:C
Gene:: SPPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120810837T>C, NC_000012.11:g.121248640T>C, NM_139015.5:c.73A>G, NM_139015.4:c.73A>G, XM_011537925.3:c.73A>G, XM_011537925.2:c.73A>G, XM_011537925.1:c.73A>G, NP_620584.2:p.Ile25Val, XP_011536227.1:p.Ile25Val

Select item 141069996520.

rs1410699965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120766322 (GRCh38)
12:121204125 (GRCh37)
Canonical SPDI:: NC_000012.12:120766321:C:T
Gene:: SPPL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.120766322C>T, NC_000012.11:g.121204125C>T, NM_139015.5:c.1024G>A, NM_139015.4:c.1024G>A, XM_011537925.3:c.1024G>A, XM_011537925.2:c.1024G>A, XM_011537925.1:c.1024G>A, NP_620584.2:p.Ala342Thr, XP_011536227.1:p.Ala342Thr

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