SNP Links for Protein (Select 55769572) - SNP

Select item 14858842401.

rs1485884240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:84604306 (GRCh38)
15:85147537 (GRCh37)
Canonical SPDI:: NC_000015.10:84604305:G:C
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.84604306G>C, NC_000015.9:g.85147537G>C, NG_047160.1:g.8321G>C, NM_017894.6:c.379G>C, NM_017894.5:c.379G>C, NM_181877.4:c.379G>C, NM_181877.3:c.379G>C, NM_001007072.2:c.379G>C, NM_001007072.1:c.379G>C, NW_025791797.1:g.1096152G>C, XM_017022393.3:c.379G>C, XM_017022393.2:c.379G>C, XM_017022393.1:c.379G>C, XM_024449978.2:c.379G>C, XM_024449978.1:c.379G>C, XM_047432781.1:c.379G>C, XM_047432782.1:c.379G>C, XM_024449975.2:c.379G>C, XM_024449975.1:c.379G>C, NP_060364.4:p.Asp127His, NP_870992.2:p.Asp127His, NP_001007073.1:p.Asp127His, XP_016877882.1:p.Asp127His, XP_024305746.1:p.Asp127His, XP_047288737.1:p.Asp127His, XP_047288738.1:p.Asp127His, XP_024305743.1:p.Asp127His

Select item 14764830562.

rs1476483056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:84604279 (GRCh38)
15:85147510 (GRCh37)
Canonical SPDI:: NC_000015.10:84604278:A:G
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.84604279A>G, NC_000015.9:g.85147510A>G, NG_047160.1:g.8294A>G, NM_017894.6:c.352A>G, NM_017894.5:c.352A>G, NM_181877.4:c.352A>G, NM_181877.3:c.352A>G, NM_001007072.2:c.352A>G, NM_001007072.1:c.352A>G, NW_025791797.1:g.1096125A>G, XM_017022393.3:c.352A>G, XM_017022393.2:c.352A>G, XM_017022393.1:c.352A>G, XM_024449978.2:c.352A>G, XM_024449978.1:c.352A>G, XM_047432781.1:c.352A>G, XM_047432782.1:c.352A>G, XM_024449975.2:c.352A>G, XM_024449975.1:c.352A>G, NP_060364.4:p.Ser118Gly, NP_870992.2:p.Ser118Gly, NP_001007073.1:p.Ser118Gly, XP_016877882.1:p.Ser118Gly, XP_024305746.1:p.Ser118Gly, XP_047288737.1:p.Ser118Gly, XP_047288738.1:p.Ser118Gly, XP_024305743.1:p.Ser118Gly

Select item 14672633803.

rs1467263380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:84604261 (GRCh38)
15:85147492 (GRCh37)
Canonical SPDI:: NC_000015.10:84604260:G:A,NC_000015.10:84604260:G:C
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.84604261G>A, NC_000015.10:g.84604261G>C, NC_000015.9:g.85147492G>A, NC_000015.9:g.85147492G>C, NG_047160.1:g.8276G>A, NG_047160.1:g.8276G>C, NM_017894.6:c.334G>A, NM_017894.6:c.334G>C, NM_017894.5:c.334G>A, NM_017894.5:c.334G>C, NM_181877.4:c.334G>A, NM_181877.4:c.334G>C, NM_181877.3:c.334G>A, NM_181877.3:c.334G>C, NM_001007072.2:c.334G>A, NM_001007072.2:c.334G>C, NM_001007072.1:c.334G>A, NM_001007072.1:c.334G>C, NW_025791797.1:g.1096107G>A, NW_025791797.1:g.1096107G>C, XM_017022393.3:c.334G>A, XM_017022393.3:c.334G>C, XM_017022393.2:c.334G>A, XM_017022393.2:c.334G>C, XM_017022393.1:c.334G>A, XM_017022393.1:c.334G>C, XM_024449978.2:c.334G>A, XM_024449978.2:c.334G>C, XM_024449978.1:c.334G>A, XM_024449978.1:c.334G>C, XM_047432781.1:c.334G>A, XM_047432781.1:c.334G>C, XM_047432782.1:c.334G>A, XM_047432782.1:c.334G>C, XM_024449975.2:c.334G>A, XM_024449975.2:c.334G>C, XM_024449975.1:c.334G>A, XM_024449975.1:c.334G>C, NP_060364.4:p.Glu112Lys, NP_060364.4:p.Glu112Gln, NP_870992.2:p.Glu112Lys, NP_870992.2:p.Glu112Gln, NP_001007073.1:p.Glu112Lys, NP_001007073.1:p.Glu112Gln, XP_016877882.1:p.Glu112Lys, XP_016877882.1:p.Glu112Gln, XP_024305746.1:p.Glu112Lys, XP_024305746.1:p.Glu112Gln, XP_047288737.1:p.Glu112Lys, XP_047288737.1:p.Glu112Gln, XP_047288738.1:p.Glu112Lys, XP_047288738.1:p.Glu112Gln, XP_024305743.1:p.Glu112Lys, XP_024305743.1:p.Glu112Gln

Select item 14665884404.

rs1466588440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:84604251 (GRCh38)
15:85147482 (GRCh37)
Canonical SPDI:: NC_000015.10:84604250:T:C
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.84604251T>C, NC_000015.9:g.85147482T>C, NG_047160.1:g.8266T>C, NM_017894.6:c.324T>C, NM_017894.5:c.324T>C, NM_181877.4:c.324T>C, NM_181877.3:c.324T>C, NM_001007072.2:c.324T>C, NM_001007072.1:c.324T>C, NW_025791797.1:g.1096097T>C, XM_017022393.3:c.324T>C, XM_017022393.2:c.324T>C, XM_017022393.1:c.324T>C, XM_024449978.2:c.324T>C, XM_024449978.1:c.324T>C, XM_047432781.1:c.324T>C, XM_047432782.1:c.324T>C, XM_024449975.2:c.324T>C, XM_024449975.1:c.324T>C

Select item 14461702185.

rs1446170218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:84604035 (GRCh38)
15:85147266 (GRCh37)
Canonical SPDI:: NC_000015.10:84604034:G:A
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000015.10:g.84604035G>A, NC_000015.9:g.85147266G>A, NG_047160.1:g.8050G>A, NM_017894.6:c.108G>A, NM_017894.5:c.108G>A, NM_181877.4:c.108G>A, NM_181877.3:c.108G>A, NM_001007072.2:c.108G>A, NM_001007072.1:c.108G>A, NW_025791797.1:g.1095881G>A, XM_017022393.3:c.108G>A, XM_017022393.2:c.108G>A, XM_017022393.1:c.108G>A, XM_024449978.2:c.108G>A, XM_024449978.1:c.108G>A, XM_047432781.1:c.108G>A, XM_047432782.1:c.108G>A, XM_024449975.2:c.108G>A, XM_024449975.1:c.108G>A

Select item 14453914696.

rs1445391469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:84604290 (GRCh38)
15:85147521 (GRCh37)
Canonical SPDI:: NC_000015.10:84604289:A:G
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.84604290A>G, NC_000015.9:g.85147521A>G, NG_047160.1:g.8305A>G, NM_017894.6:c.363A>G, NM_017894.5:c.363A>G, NM_181877.4:c.363A>G, NM_181877.3:c.363A>G, NM_001007072.2:c.363A>G, NM_001007072.1:c.363A>G, NW_025791797.1:g.1096136A>G, XM_017022393.3:c.363A>G, XM_017022393.2:c.363A>G, XM_017022393.1:c.363A>G, XM_024449978.2:c.363A>G, XM_024449978.1:c.363A>G, XM_047432781.1:c.363A>G, XM_047432782.1:c.363A>G, XM_024449975.2:c.363A>G, XM_024449975.1:c.363A>G

Select item 14433362057.

rs1443336205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:84604044 (GRCh38)
15:85147275 (GRCh37)
Canonical SPDI:: NC_000015.10:84604043:C:G,NC_000015.10:84604043:C:T
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.84604044C>G, NC_000015.10:g.84604044C>T, NC_000015.9:g.85147275C>G, NC_000015.9:g.85147275C>T, NG_047160.1:g.8059C>G, NG_047160.1:g.8059C>T, NM_017894.6:c.117C>G, NM_017894.6:c.117C>T, NM_017894.5:c.117C>G, NM_017894.5:c.117C>T, NM_181877.4:c.117C>G, NM_181877.4:c.117C>T, NM_181877.3:c.117C>G, NM_181877.3:c.117C>T, NM_001007072.2:c.117C>G, NM_001007072.2:c.117C>T, NM_001007072.1:c.117C>G, NM_001007072.1:c.117C>T, NW_025791797.1:g.1095890C>G, NW_025791797.1:g.1095890C>T, XM_017022393.3:c.117C>G, XM_017022393.3:c.117C>T, XM_017022393.2:c.117C>G, XM_017022393.2:c.117C>T, XM_017022393.1:c.117C>G, XM_017022393.1:c.117C>T, XM_024449978.2:c.117C>G, XM_024449978.2:c.117C>T, XM_024449978.1:c.117C>G, XM_024449978.1:c.117C>T, XM_047432781.1:c.117C>G, XM_047432781.1:c.117C>T, XM_047432782.1:c.117C>G, XM_047432782.1:c.117C>T, XM_024449975.2:c.117C>G, XM_024449975.2:c.117C>T, XM_024449975.1:c.117C>G, XM_024449975.1:c.117C>T

Select item 14322884148.

rs1432288414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:84603983 (GRCh38)
15:85147214 (GRCh37)
Canonical SPDI:: NC_000015.10:84603982:T:G
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.84603983T>G, NC_000015.9:g.85147214T>G, NG_047160.1:g.7998T>G, NM_017894.6:c.56T>G, NM_017894.5:c.56T>G, NM_181877.4:c.56T>G, NM_181877.3:c.56T>G, NM_001007072.2:c.56T>G, NM_001007072.1:c.56T>G, NW_025791797.1:g.1095829T>G, XM_017022393.3:c.56T>G, XM_017022393.2:c.56T>G, XM_017022393.1:c.56T>G, XM_024449978.2:c.56T>G, XM_024449978.1:c.56T>G, XM_047432781.1:c.56T>G, XM_047432782.1:c.56T>G, XR_932550.1:n.192A>C, XM_024449975.2:c.56T>G, XM_024449975.1:c.56T>G, XR_007069537.1:n.192A>C, NP_060364.4:p.Val19Gly, NP_870992.2:p.Val19Gly, NP_001007073.1:p.Val19Gly, XP_016877882.1:p.Val19Gly, XP_024305746.1:p.Val19Gly, XP_047288737.1:p.Val19Gly, XP_047288738.1:p.Val19Gly, XP_024305743.1:p.Val19Gly

Select item 14249484389.

rs1424948438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:84604171 (GRCh38)
15:85147402 (GRCh37)
Canonical SPDI:: NC_000015.10:84604170:G:A,NC_000015.10:84604170:G:C
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.84604171G>A, NC_000015.10:g.84604171G>C, NC_000015.9:g.85147402G>A, NC_000015.9:g.85147402G>C, NG_047160.1:g.8186G>A, NG_047160.1:g.8186G>C, NM_017894.6:c.244G>A, NM_017894.6:c.244G>C, NM_017894.5:c.244G>A, NM_017894.5:c.244G>C, NM_181877.4:c.244G>A, NM_181877.4:c.244G>C, NM_181877.3:c.244G>A, NM_181877.3:c.244G>C, NM_001007072.2:c.244G>A, NM_001007072.2:c.244G>C, NM_001007072.1:c.244G>A, NM_001007072.1:c.244G>C, NW_025791797.1:g.1096017G>A, NW_025791797.1:g.1096017G>C, XM_017022393.3:c.244G>A, XM_017022393.3:c.244G>C, XM_017022393.2:c.244G>A, XM_017022393.2:c.244G>C, XM_017022393.1:c.244G>A, XM_017022393.1:c.244G>C, XM_024449978.2:c.244G>A, XM_024449978.2:c.244G>C, XM_024449978.1:c.244G>A, XM_024449978.1:c.244G>C, XM_047432781.1:c.244G>A, XM_047432781.1:c.244G>C, XM_047432782.1:c.244G>A, XM_047432782.1:c.244G>C, XM_024449975.2:c.244G>A, XM_024449975.2:c.244G>C, XM_024449975.1:c.244G>A, XM_024449975.1:c.244G>C, NP_060364.4:p.Glu82Lys, NP_060364.4:p.Glu82Gln, NP_870992.2:p.Glu82Lys, NP_870992.2:p.Glu82Gln, NP_001007073.1:p.Glu82Lys, NP_001007073.1:p.Glu82Gln, XP_016877882.1:p.Glu82Lys, XP_016877882.1:p.Glu82Gln, XP_024305746.1:p.Glu82Lys, XP_024305746.1:p.Glu82Gln, XP_047288737.1:p.Glu82Lys, XP_047288737.1:p.Glu82Gln, XP_047288738.1:p.Glu82Lys, XP_047288738.1:p.Glu82Gln, XP_024305743.1:p.Glu82Lys, XP_024305743.1:p.Glu82Gln

Select item 141962675410.

rs1419626754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:84604048 (GRCh38)
15:85147279 (GRCh37)
Canonical SPDI:: NC_000015.10:84604047:G:A
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.84604048G>A, NC_000015.9:g.85147279G>A, NG_047160.1:g.8063G>A, NM_017894.6:c.121G>A, NM_017894.5:c.121G>A, NM_181877.4:c.121G>A, NM_181877.3:c.121G>A, NM_001007072.2:c.121G>A, NM_001007072.1:c.121G>A, NW_025791797.1:g.1095894G>A, XM_017022393.3:c.121G>A, XM_017022393.2:c.121G>A, XM_017022393.1:c.121G>A, XM_024449978.2:c.121G>A, XM_024449978.1:c.121G>A, XM_047432781.1:c.121G>A, XM_047432782.1:c.121G>A, XM_024449975.2:c.121G>A, XM_024449975.1:c.121G>A, NP_060364.4:p.Val41Met, NP_870992.2:p.Val41Met, NP_001007073.1:p.Val41Met, XP_016877882.1:p.Val41Met, XP_024305746.1:p.Val41Met, XP_047288737.1:p.Val41Met, XP_047288738.1:p.Val41Met, XP_024305743.1:p.Val41Met

Select item 141392727711.

rs1413927277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:84604196 (GRCh38)
15:85147427 (GRCh37)
Canonical SPDI:: NC_000015.10:84604195:C:G,NC_000015.10:84604195:C:T
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.84604196C>G, NC_000015.10:g.84604196C>T, NC_000015.9:g.85147427C>G, NC_000015.9:g.85147427C>T, NG_047160.1:g.8211C>G, NG_047160.1:g.8211C>T, NM_017894.6:c.269C>G, NM_017894.6:c.269C>T, NM_017894.5:c.269C>G, NM_017894.5:c.269C>T, NM_181877.4:c.269C>G, NM_181877.4:c.269C>T, NM_181877.3:c.269C>G, NM_181877.3:c.269C>T, NM_001007072.2:c.269C>G, NM_001007072.2:c.269C>T, NM_001007072.1:c.269C>G, NM_001007072.1:c.269C>T, NW_025791797.1:g.1096042C>G, NW_025791797.1:g.1096042C>T, XM_017022393.3:c.269C>G, XM_017022393.3:c.269C>T, XM_017022393.2:c.269C>G, XM_017022393.2:c.269C>T, XM_017022393.1:c.269C>G, XM_017022393.1:c.269C>T, XM_024449978.2:c.269C>G, XM_024449978.2:c.269C>T, XM_024449978.1:c.269C>G, XM_024449978.1:c.269C>T, XM_047432781.1:c.269C>G, XM_047432781.1:c.269C>T, XM_047432782.1:c.269C>G, XM_047432782.1:c.269C>T, XM_024449975.2:c.269C>G, XM_024449975.2:c.269C>T, XM_024449975.1:c.269C>G, XM_024449975.1:c.269C>T, NP_060364.4:p.Pro90Arg, NP_060364.4:p.Pro90Leu, NP_870992.2:p.Pro90Arg, NP_870992.2:p.Pro90Leu, NP_001007073.1:p.Pro90Arg, NP_001007073.1:p.Pro90Leu, XP_016877882.1:p.Pro90Arg, XP_016877882.1:p.Pro90Leu, XP_024305746.1:p.Pro90Arg, XP_024305746.1:p.Pro90Leu, XP_047288737.1:p.Pro90Arg, XP_047288737.1:p.Pro90Leu, XP_047288738.1:p.Pro90Arg, XP_047288738.1:p.Pro90Leu, XP_024305743.1:p.Pro90Arg, XP_024305743.1:p.Pro90Leu

Select item 139685086412.

rs1396850864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:84604183 (GRCh38)
15:85147414 (GRCh37)
Canonical SPDI:: NC_000015.10:84604182:C:T
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.84604183C>T, NC_000015.9:g.85147414C>T, NG_047160.1:g.8198C>T, NM_017894.6:c.256C>T, NM_017894.5:c.256C>T, NM_181877.4:c.256C>T, NM_181877.3:c.256C>T, NM_001007072.2:c.256C>T, NM_001007072.1:c.256C>T, NW_025791797.1:g.1096029C>T, XM_017022393.3:c.256C>T, XM_017022393.2:c.256C>T, XM_017022393.1:c.256C>T, XM_024449978.2:c.256C>T, XM_024449978.1:c.256C>T, XM_047432781.1:c.256C>T, XM_047432782.1:c.256C>T, XM_024449975.2:c.256C>T, XM_024449975.1:c.256C>T, NP_060364.4:p.Arg86Cys, NP_870992.2:p.Arg86Cys, NP_001007073.1:p.Arg86Cys, XP_016877882.1:p.Arg86Cys, XP_024305746.1:p.Arg86Cys, XP_047288737.1:p.Arg86Cys, XP_047288738.1:p.Arg86Cys, XP_024305743.1:p.Arg86Cys

Select item 138186199913.

rs1381861999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:84604134 (GRCh38)
15:85147365 (GRCh37)
Canonical SPDI:: NC_000015.10:84604133:G:A
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0004/2 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000015.10:g.84604134G>A, NC_000015.9:g.85147365G>A, NG_047160.1:g.8149G>A, NM_017894.6:c.207G>A, NM_017894.5:c.207G>A, NM_181877.4:c.207G>A, NM_181877.3:c.207G>A, NM_001007072.2:c.207G>A, NM_001007072.1:c.207G>A, NW_025791797.1:g.1095980G>A, XM_017022393.3:c.207G>A, XM_017022393.2:c.207G>A, XM_017022393.1:c.207G>A, XM_024449978.2:c.207G>A, XM_024449978.1:c.207G>A, XM_047432781.1:c.207G>A, XM_047432782.1:c.207G>A, XM_024449975.2:c.207G>A, XM_024449975.1:c.207G>A

Select item 136164836714.

rs1361648367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:84604255 (GRCh38)
15:85147486 (GRCh37)
Canonical SPDI:: NC_000015.10:84604254:C:T
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.84604255C>T, NC_000015.9:g.85147486C>T, NG_047160.1:g.8270C>T, NM_017894.6:c.328C>T, NM_017894.5:c.328C>T, NM_181877.4:c.328C>T, NM_181877.3:c.328C>T, NM_001007072.2:c.328C>T, NM_001007072.1:c.328C>T, NW_025791797.1:g.1096101C>T, XM_017022393.3:c.328C>T, XM_017022393.2:c.328C>T, XM_017022393.1:c.328C>T, XM_024449978.2:c.328C>T, XM_024449978.1:c.328C>T, XM_047432781.1:c.328C>T, XM_047432782.1:c.328C>T, XM_024449975.2:c.328C>T, XM_024449975.1:c.328C>T

Select item 136075221515.

rs1360752215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:84603993 (GRCh38)
15:85147224 (GRCh37)
Canonical SPDI:: NC_000015.10:84603992:G:A
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.84603993G>A, NC_000015.9:g.85147224G>A, NG_047160.1:g.8008G>A, NM_017894.6:c.66G>A, NM_017894.5:c.66G>A, NM_181877.4:c.66G>A, NM_181877.3:c.66G>A, NM_001007072.2:c.66G>A, NM_001007072.1:c.66G>A, NW_025791797.1:g.1095839G>A, XM_017022393.3:c.66G>A, XM_017022393.2:c.66G>A, XM_017022393.1:c.66G>A, XM_024449978.2:c.66G>A, XM_024449978.1:c.66G>A, XM_047432781.1:c.66G>A, XM_047432782.1:c.66G>A, XM_024449975.2:c.66G>A, XM_024449975.1:c.66G>A

Select item 135338443416.

rs1353384434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:84604190 (GRCh38)
15:85147421 (GRCh37)
Canonical SPDI:: NC_000015.10:84604189:T:C
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.84604190T>C, NC_000015.9:g.85147421T>C, NG_047160.1:g.8205T>C, NM_017894.6:c.263T>C, NM_017894.5:c.263T>C, NM_181877.4:c.263T>C, NM_181877.3:c.263T>C, NM_001007072.2:c.263T>C, NM_001007072.1:c.263T>C, NW_025791797.1:g.1096036T>C, XM_017022393.3:c.263T>C, XM_017022393.2:c.263T>C, XM_017022393.1:c.263T>C, XM_024449978.2:c.263T>C, XM_024449978.1:c.263T>C, XM_047432781.1:c.263T>C, XM_047432782.1:c.263T>C, XM_024449975.2:c.263T>C, XM_024449975.1:c.263T>C, NP_060364.4:p.Leu88Pro, NP_870992.2:p.Leu88Pro, NP_001007073.1:p.Leu88Pro, XP_016877882.1:p.Leu88Pro, XP_024305746.1:p.Leu88Pro, XP_047288737.1:p.Leu88Pro, XP_047288738.1:p.Leu88Pro, XP_024305743.1:p.Leu88Pro

Select item 135019332617.

rs1350193326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:84604128 (GRCh38)
15:85147359 (GRCh37)
Canonical SPDI:: NC_000015.10:84604127:G:A,NC_000015.10:84604127:G:C
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.84604128G>A, NC_000015.10:g.84604128G>C, NC_000015.9:g.85147359G>A, NC_000015.9:g.85147359G>C, NG_047160.1:g.8143G>A, NG_047160.1:g.8143G>C, NM_017894.6:c.201G>A, NM_017894.6:c.201G>C, NM_017894.5:c.201G>A, NM_017894.5:c.201G>C, NM_181877.4:c.201G>A, NM_181877.4:c.201G>C, NM_181877.3:c.201G>A, NM_181877.3:c.201G>C, NM_001007072.2:c.201G>A, NM_001007072.2:c.201G>C, NM_001007072.1:c.201G>A, NM_001007072.1:c.201G>C, NW_025791797.1:g.1095974G>A, NW_025791797.1:g.1095974G>C, XM_017022393.3:c.201G>A, XM_017022393.3:c.201G>C, XM_017022393.2:c.201G>A, XM_017022393.2:c.201G>C, XM_017022393.1:c.201G>A, XM_017022393.1:c.201G>C, XM_024449978.2:c.201G>A, XM_024449978.2:c.201G>C, XM_024449978.1:c.201G>A, XM_024449978.1:c.201G>C, XM_047432781.1:c.201G>A, XM_047432781.1:c.201G>C, XM_047432782.1:c.201G>A, XM_047432782.1:c.201G>C, XM_024449975.2:c.201G>A, XM_024449975.2:c.201G>C, XM_024449975.1:c.201G>A, XM_024449975.1:c.201G>C, NP_060364.4:p.Glu67Asp, NP_870992.2:p.Glu67Asp, NP_001007073.1:p.Glu67Asp, XP_016877882.1:p.Glu67Asp, XP_024305746.1:p.Glu67Asp, XP_047288737.1:p.Glu67Asp, XP_047288738.1:p.Glu67Asp, XP_024305743.1:p.Glu67Asp

Select item 134884424918.

rs1348844249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:84604221 (GRCh38)
15:85147452 (GRCh37)
Canonical SPDI:: NC_000015.10:84604220:G:A
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.84604221G>A, NC_000015.9:g.85147452G>A, NG_047160.1:g.8236G>A, NM_017894.6:c.294G>A, NM_017894.5:c.294G>A, NM_181877.4:c.294G>A, NM_181877.3:c.294G>A, NM_001007072.2:c.294G>A, NM_001007072.1:c.294G>A, NW_025791797.1:g.1096067G>A, XM_017022393.3:c.294G>A, XM_017022393.2:c.294G>A, XM_017022393.1:c.294G>A, XM_024449978.2:c.294G>A, XM_024449978.1:c.294G>A, XM_047432781.1:c.294G>A, XM_047432782.1:c.294G>A, XM_024449975.2:c.294G>A, XM_024449975.1:c.294G>A, NP_060364.4:p.Met98Ile, NP_870992.2:p.Met98Ile, NP_001007073.1:p.Met98Ile, XP_016877882.1:p.Met98Ile, XP_024305746.1:p.Met98Ile, XP_047288737.1:p.Met98Ile, XP_047288738.1:p.Met98Ile, XP_024305743.1:p.Met98Ile

Select item 134506422719.

rs1345064227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:84604212 (GRCh38)
15:85147443 (GRCh37)
Canonical SPDI:: NC_000015.10:84604211:G:A
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.84604212G>A, NC_000015.9:g.85147443G>A, NG_047160.1:g.8227G>A, NM_017894.6:c.285G>A, NM_017894.5:c.285G>A, NM_181877.4:c.285G>A, NM_181877.3:c.285G>A, NM_001007072.2:c.285G>A, NM_001007072.1:c.285G>A, NW_025791797.1:g.1096058G>A, XM_017022393.3:c.285G>A, XM_017022393.2:c.285G>A, XM_017022393.1:c.285G>A, XM_024449978.2:c.285G>A, XM_024449978.1:c.285G>A, XM_047432781.1:c.285G>A, XM_047432782.1:c.285G>A, XM_024449975.2:c.285G>A, XM_024449975.1:c.285G>A

Select item 133935150220.

rs1339351502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:84616335 (GRCh38)
15:85159566 (GRCh37)
Canonical SPDI:: NC_000015.10:84616334:C:T
Gene:: ZSCAN2 (Varview), LOC105370947 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.84616335C>T, NC_000015.9:g.85159566C>T, NG_047160.1:g.20350C>T, NM_001007072.2:c.433C>T, NM_001007072.1:c.433C>T, NW_025791797.1:g.1108181C>T, XM_017022393.3:c.*25C>T, XM_017022393.2:c.*25C>T, XM_017022393.1:c.*25C>T, XR_932550.1:n.11G>A, XR_007069537.1:n.11G>A, NP_001007073.1:p.Pro145Ser

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Items: 1 to 20 of 171

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