SNP Links for Protein (Select 207028781) - SNP

Links from Protein

Items: 1 to 20 of 674

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Select item 14893901251.

rs1489390125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56190267 (GRCh38)
19:56701636 (GRCh37)
Canonical SPDI:: NC_000019.10:56190266:T:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.56190267T>C, NC_000019.9:g.56701636T>C, NM_001080456.5:c.1048A>G, NM_001080456.4:c.1048A>G, NM_001080456.3:c.1048A>G, NM_001080456.2:c.1048A>G, NM_001385638.1:c.1048A>G, NP_001073925.2:p.Lys350Glu, NP_001372567.1:p.Lys350Glu

Select item 14874063272.

rs1487406327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:56192967 (GRCh38)
19:56704336 (GRCh37)
Canonical SPDI:: NC_000019.10:56192966:G:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56192967G>C, NC_000019.9:g.56704336G>C, NM_001080456.5:c.86C>G, NM_001080456.4:c.86C>G, NM_001080456.3:c.86C>G, NM_001080456.2:c.86C>G, NM_001385638.1:c.86C>G, NP_001073925.2:p.Pro29Arg, NP_001372567.1:p.Pro29Arg

Select item 14868539793.

rs1486853979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:56190036 (GRCh38)
19:56701405 (GRCh37)
Canonical SPDI:: NC_000019.10:56190035:G:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56190036G>C, NC_000019.9:g.56701405G>C, NM_001080456.5:c.1279C>G, NM_001080456.4:c.1279C>G, NM_001080456.3:c.1279C>G, NM_001080456.2:c.1279C>G, NM_001385638.1:c.1279C>G, NP_001073925.2:p.Gln427Glu, NP_001372567.1:p.Gln427Glu

Select item 14862056934.

rs1486205693 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:56191903 (GRCh38)
19:56703272 (GRCh37)
Canonical SPDI:: NC_000019.10:56191902:CC:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56191904del, NC_000019.9:g.56703273del, NM_001080456.5:c.535del, NM_001080456.4:c.535del, NM_001080456.3:c.535del, NM_001080456.2:c.535del, NM_001385638.1:c.535del, NP_001073925.2:p.Ala179fs, NP_001372567.1:p.Ala179fs

Select item 14832403985.

rs1483240398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:56190905 (GRCh38)
19:56702274 (GRCh37)
Canonical SPDI:: NC_000019.10:56190904:T:A
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56190905T>A, NC_000019.9:g.56702274T>A, NM_001080456.5:c.671A>T, NM_001080456.4:c.671A>T, NM_001080456.3:c.671A>T, NM_001080456.2:c.671A>T, NM_001385638.1:c.671A>T, NP_001073925.2:p.Asp224Val, NP_001372567.1:p.Asp224Val

Select item 14764363996.

rs1476436399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56190008 (GRCh38)
19:56701377 (GRCh37)
Canonical SPDI:: NC_000019.10:56190007:T:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000016/4 (GnomAD_exomes)
C=0.00003/8 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.56190008T>C, NC_000019.9:g.56701377T>C, NM_001080456.5:c.1307A>G, NM_001080456.4:c.1307A>G, NM_001080456.3:c.1307A>G, NM_001080456.2:c.1307A>G, NM_001385638.1:c.1307A>G, NP_001073925.2:p.Glu436Gly, NP_001372567.1:p.Glu436Gly

Select item 14760401247.

rs1476040124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:56190041 (GRCh38)
19:56701410 (GRCh37)
Canonical SPDI:: NC_000019.10:56190040:G:T
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56190041G>T, NC_000019.9:g.56701410G>T, NM_001080456.5:c.1274C>A, NM_001080456.4:c.1274C>A, NM_001080456.3:c.1274C>A, NM_001080456.2:c.1274C>A, NM_001385638.1:c.1274C>A, NP_001073925.2:p.Thr425Asn, NP_001372567.1:p.Thr425Asn

Select item 14725510738.

rs1472551073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:56190189 (GRCh38)
19:56701558 (GRCh37)
Canonical SPDI:: NC_000019.10:56190188:A:G,NC_000019.10:56190188:A:T
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000017/2 (ExAC)
HGVS:: NC_000019.10:g.56190189A>G, NC_000019.10:g.56190189A>T, NC_000019.9:g.56701558A>G, NC_000019.9:g.56701558A>T, NM_001080456.5:c.1126T>C, NM_001080456.5:c.1126T>A, NM_001080456.4:c.1126T>C, NM_001080456.4:c.1126T>A, NM_001080456.3:c.1126T>C, NM_001080456.3:c.1126T>A, NM_001080456.2:c.1126T>C, NM_001080456.2:c.1126T>A, NM_001385638.1:c.1126T>C, NM_001385638.1:c.1126T>A, NP_001073925.2:p.Ser376Pro, NP_001073925.2:p.Ser376Thr, NP_001372567.1:p.Ser376Pro, NP_001372567.1:p.Ser376Thr

Select item 14686547729.

rs1468654772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56192976 (GRCh38)
19:56704345 (GRCh37)
Canonical SPDI:: NC_000019.10:56192975:A:G
Gene:: ZSCAN5B (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=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.56192976A>G, NC_000019.9:g.56704345A>G, NM_001080456.5:c.77T>C, NM_001080456.4:c.77T>C, NM_001080456.3:c.77T>C, NM_001080456.2:c.77T>C, NM_001385638.1:c.77T>C, NP_001073925.2:p.Val26Ala, NP_001372567.1:p.Val26Ala

Select item 146710240010.

rs1467102400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:56191969 (GRCh38)
19:56703338 (GRCh37)
Canonical SPDI:: NC_000019.10:56191968:C:A,NC_000019.10:56191968:C:G
Gene:: ZSCAN5B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000019.10:g.56191969C>A, NC_000019.10:g.56191969C>G, NC_000019.9:g.56703338C>A, NC_000019.9:g.56703338C>G, NM_001080456.5:c.469G>T, NM_001080456.5:c.469G>C, NM_001080456.4:c.469G>T, NM_001080456.4:c.469G>C, NM_001080456.3:c.469G>T, NM_001080456.3:c.469G>C, NM_001080456.2:c.469G>T, NM_001080456.2:c.469G>C, NM_001385638.1:c.469G>T, NM_001385638.1:c.469G>C, NP_001073925.2:p.Asp157Tyr, NP_001073925.2:p.Asp157His, NP_001372567.1:p.Asp157Tyr, NP_001372567.1:p.Asp157His

Select item 146624097411.

rs1466240974 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:56190353 (GRCh38)
19:56701722 (GRCh37)
Canonical SPDI:: NC_000019.10:56190349:TCTCT:TCT
Gene:: ZSCAN5B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56190351CT[1], NC_000019.9:g.56701720CT[1], NM_001080456.5:c.964_965del, NM_001080456.4:c.964_965del, NM_001080456.3:c.964_965del, NM_001080456.2:c.964_965del, NM_001385638.1:c.964_965del, NP_001073925.2:p.Glu322fs, NP_001372567.1:p.Glu322fs

Select item 146349870412.

rs1463498704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56189964 (GRCh38)
19:56701333 (GRCh37)
Canonical SPDI:: NC_000019.10:56189963:T:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56189964T>C, NC_000019.9:g.56701333T>C, NM_001080456.5:c.1351A>G, NM_001080456.4:c.1351A>G, NM_001080456.3:c.1351A>G, NM_001080456.2:c.1351A>G, NM_001385638.1:c.1351A>G, NP_001073925.2:p.Lys451Glu, NP_001372567.1:p.Lys451Glu

Select item 146342473913.

rs1463424739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56190910 (GRCh38)
19:56702279 (GRCh37)
Canonical SPDI:: NC_000019.10:56190909:C:T
Gene:: ZSCAN5B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000019.10:g.56190910C>T, NC_000019.9:g.56702279C>T, NM_001080456.5:c.666G>A, NM_001080456.4:c.666G>A, NM_001080456.3:c.666G>A, NM_001080456.2:c.666G>A, NM_001385638.1:c.666G>A

Select item 146286403314.

rs1462864033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:56192025 (GRCh38)
19:56703394 (GRCh37)
Canonical SPDI:: NC_000019.10:56192024:T:C,NC_000019.10:56192024:T:G
Gene:: ZSCAN5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56192025T>C, NC_000019.10:g.56192025T>G, NC_000019.9:g.56703394T>C, NC_000019.9:g.56703394T>G, NM_001080456.5:c.413A>G, NM_001080456.5:c.413A>C, NM_001080456.4:c.413A>G, NM_001080456.4:c.413A>C, NM_001080456.3:c.413A>G, NM_001080456.3:c.413A>C, NM_001080456.2:c.413A>G, NM_001080456.2:c.413A>C, NM_001385638.1:c.413A>G, NM_001385638.1:c.413A>C, NP_001073925.2:p.Tyr138Cys, NP_001073925.2:p.Tyr138Ser, NP_001372567.1:p.Tyr138Cys, NP_001372567.1:p.Tyr138Ser

Select item 145962746815.

rs1459627468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56192781 (GRCh38)
19:56704150 (GRCh37)
Canonical SPDI:: NC_000019.10:56192780:T:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56192781T>C, NC_000019.9:g.56704150T>C, NM_001080456.5:c.272A>G, NM_001080456.4:c.272A>G, NM_001080456.3:c.272A>G, NM_001080456.2:c.272A>G, NM_001385638.1:c.272A>G, NP_001073925.2:p.Gln91Arg, NP_001372567.1:p.Gln91Arg

Select item 145650001316.

rs1456500013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56189919 (GRCh38)
19:56701288 (GRCh37)
Canonical SPDI:: NC_000019.10:56189918:G:A
Gene:: ZSCAN5B (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_000019.10:g.56189919G>A, NC_000019.9:g.56701288G>A, NM_001080456.5:c.1396C>T, NM_001080456.4:c.1396C>T, NM_001080456.3:c.1396C>T, NM_001080456.2:c.1396C>T, NM_001385638.1:c.1396C>T, NP_001073925.2:p.Pro466Ser, NP_001372567.1:p.Pro466Ser

Select item 145593439717.

rs1455934397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:56190480 (GRCh38)
19:56701849 (GRCh37)
Canonical SPDI:: NC_000019.10:56190479:C:A
Gene:: ZSCAN5B (Varview)
Functional Consequence:: stop_gained,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_000019.10:g.56190480C>A, NC_000019.9:g.56701849C>A, NM_001080456.5:c.835G>T, NM_001080456.4:c.835G>T, NM_001080456.3:c.835G>T, NM_001080456.2:c.835G>T, NM_001385638.1:c.835G>T, NP_001073925.2:p.Glu279Ter, NP_001372567.1:p.Glu279Ter

Select item 144897926018.

rs1448979260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56192047 (GRCh38)
19:56703416 (GRCh37)
Canonical SPDI:: NC_000019.10:56192046:C:T
Gene:: ZSCAN5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.56192047C>T, NC_000019.9:g.56703416C>T, NM_001080456.5:c.391G>A, NM_001080456.4:c.391G>A, NM_001080456.3:c.391G>A, NM_001080456.2:c.391G>A, NM_001385638.1:c.391G>A, NP_001073925.2:p.Val131Ile, NP_001372567.1:p.Val131Ile

Select item 144801408719.

rs1448014087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:56190066 (GRCh38)
19:56701435 (GRCh37)
Canonical SPDI:: NC_000019.10:56190065:G:A,NC_000019.10:56190065:G:C
Gene:: ZSCAN5B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56190066G>A, NC_000019.10:g.56190066G>C, NC_000019.9:g.56701435G>A, NC_000019.9:g.56701435G>C, NM_001080456.5:c.1249C>T, NM_001080456.5:c.1249C>G, NM_001080456.4:c.1249C>T, NM_001080456.4:c.1249C>G, NM_001080456.3:c.1249C>T, NM_001080456.3:c.1249C>G, NM_001080456.2:c.1249C>T, NM_001080456.2:c.1249C>G, NM_001385638.1:c.1249C>T, NM_001385638.1:c.1249C>G, NP_001073925.2:p.Gln417Ter, NP_001073925.2:p.Gln417Glu, NP_001372567.1:p.Gln417Ter, NP_001372567.1:p.Gln417Glu

Select item 144686704420.

rs1446867044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:56190516 (GRCh38)
19:56701885 (GRCh37)
Canonical SPDI:: NC_000019.10:56190515:C:A
Gene:: ZSCAN5B (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_000019.10:g.56190516C>A, NC_000019.9:g.56701885C>A, NM_001080456.5:c.799G>T, NM_001080456.4:c.799G>T, NM_001080456.3:c.799G>T, NM_001080456.2:c.799G>T, NM_001385638.1:c.799G>T, NP_001073925.2:p.Asp267Tyr, NP_001372567.1:p.Asp267Tyr

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