SNP Links for Protein (Select 1001624485) - SNP

Links from Protein

Items: 1 to 20 of 270

<< First< Prev

Page of 14

Next >Last >>

Select item 14888372471.

rs1488837247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:28129845 (GRCh38)
6:28097623 (GRCh37)
Canonical SPDI:: NC_000006.12:28129844:C:A
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28129845C>A, NC_000006.11:g.28097623C>A, NM_025231.3:c.942C>A, NM_025231.2:c.942C>A, NM_025231.1:c.942C>A, XM_017011324.2:c.942C>A, XM_017011324.1:c.942C>A, NM_001320557.2:c.*412C>A, NM_001320557.1:c.*412C>A, NM_001320555.2:c.942C>A, NM_001320555.1:c.942C>A, NM_001320556.2:c.855C>A, NM_001320556.1:c.855C>A, XM_047419378.1:c.*412C>A, XM_047419379.1:c.*412C>A, NP_079507.1:p.His314Gln, XP_016866813.1:p.His314Gln, NP_001307484.1:p.His314Gln, NP_001307485.1:p.His285Gln

Select item 14829320622.

rs1482932062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28129534 (GRCh38)
6:28097312 (GRCh37)
Canonical SPDI:: NC_000006.12:28129533:C:T
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28129534C>T, NC_000006.11:g.28097312C>T, NM_025231.3:c.631C>T, NM_025231.2:c.631C>T, NM_025231.1:c.631C>T, XM_017011324.2:c.631C>T, XM_017011324.1:c.631C>T, NM_001320557.2:c.*101C>T, NM_001320557.1:c.*101C>T, NM_001320555.2:c.631C>T, NM_001320555.1:c.631C>T, NM_001320556.2:c.544C>T, NM_001320556.1:c.544C>T, XM_047419378.1:c.*101C>T, XM_047419379.1:c.*101C>T, NP_079507.1:p.Pro211Ser, XP_016866813.1:p.Pro211Ser, NP_001307484.1:p.Pro211Ser, NP_001307485.1:p.Pro182Ser

Select item 14797332123.

rs1479733212 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:28129431 (GRCh38)
6:28097209 (GRCh37)
Canonical SPDI:: NC_000006.12:28129430:T:
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,stop_lost,intron_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28129431del, NC_000006.11:g.28097209del, NM_025231.3:c.528del, NM_025231.2:c.528del, NM_025231.1:c.528del, XM_017011324.2:c.528del, XM_017011324.1:c.528del, NM_001320557.2:c.586del, NM_001320557.1:c.586del, NM_001320555.2:c.528del, NM_001320555.1:c.528del, NM_001320556.2:c.441del, NM_001320556.1:c.441del, XM_047419378.1:c.586del, XM_047419379.1:c.586del, NP_079507.1:p.Asp177fs, XP_016866813.1:p.Asp177fs, NP_001307486.1:p.Ter196AspextTer?, NP_001307484.1:p.Asp177fs, NP_001307485.1:p.Asp148fs, XP_047275334.1:p.Ter196AspextTer?, XP_047275335.1:p.Ter196AspextTer?

Select item 14779083784.

rs1477908378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28129944 (GRCh38)
6:28097722 (GRCh37)
Canonical SPDI:: NC_000006.12:28129943:C:T
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.28129944C>T, NC_000006.11:g.28097722C>T, NM_025231.3:c.1041C>T, NM_025231.2:c.1041C>T, NM_025231.1:c.1041C>T, XM_017011324.2:c.1041C>T, XM_017011324.1:c.1041C>T, NM_001320557.2:c.*511C>T, NM_001320557.1:c.*511C>T, NM_001320555.2:c.1041C>T, NM_001320555.1:c.1041C>T, NM_001320556.2:c.954C>T, NM_001320556.1:c.954C>T, XM_047419378.1:c.*511C>T, XM_047419379.1:c.*511C>T

Select item 14757739025.

rs1475773902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28129548 (GRCh38)
6:28097326 (GRCh37)
Canonical SPDI:: NC_000006.12:28129547:G:A
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28129548G>A, NC_000006.11:g.28097326G>A, NM_025231.3:c.645G>A, NM_025231.2:c.645G>A, NM_025231.1:c.645G>A, XM_017011324.2:c.645G>A, XM_017011324.1:c.645G>A, NM_001320557.2:c.*115G>A, NM_001320557.1:c.*115G>A, NM_001320555.2:c.645G>A, NM_001320555.1:c.645G>A, NM_001320556.2:c.558G>A, NM_001320556.1:c.558G>A, XM_047419378.1:c.*115G>A, XM_047419379.1:c.*115G>A

Select item 14757038526.

rs1475703852 [Homo sapiens]

Variant type:: DEL
Alleles:: GAAGGAAGATATGCC>- [Show Flanks]
Chromosome:: 6:28129467 (GRCh38)
6:28097245 (GRCh37)
Canonical SPDI:: NC_000006.12:28129466:GAAGGAAGATATGCC:
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.28129467_28129481del, NC_000006.11:g.28097245_28097259del, NM_025231.3:c.564_578del, NM_025231.2:c.564_578del, NM_025231.1:c.564_578del, XM_017011324.2:c.564_578del, XM_017011324.1:c.564_578del, NM_001320557.2:c.*34_*48del, NM_001320557.1:c.*34_*48del, NM_001320555.2:c.564_578del, NM_001320555.1:c.564_578del, NM_001320556.2:c.477_491del, NM_001320556.1:c.477_491del, XM_047419378.1:c.*34_*48del, XM_047419379.1:c.*34_*48del, NP_079507.1:p.Gln188_Pro193delinsHis, XP_016866813.1:p.Gln188_Pro193delinsHis, NP_001307484.1:p.Gln188_Pro193delinsHis, NP_001307485.1:p.Gln159_Pro164delinsHis

Select item 14756392097.

rs1475639209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28125448 (GRCh38)
6:28093226 (GRCh37)
Canonical SPDI:: NC_000006.12:28125447:C:T
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28125448C>T, NC_000006.11:g.28093226C>T, NM_025231.3:c.5C>T, NM_025231.2:c.5C>T, NM_025231.1:c.5C>T, XM_017011324.2:c.5C>T, XM_017011324.1:c.5C>T, NM_001320557.2:c.5C>T, NM_001320557.1:c.5C>T, NM_001320555.2:c.5C>T, NM_001320555.1:c.5C>T, NM_001320558.2:c.5C>T, NM_001320558.1:c.5C>T, NM_001320556.2:c.5C>T, NM_001320556.1:c.5C>T, XM_047419378.1:c.5C>T, XM_047419379.1:c.5C>T, NP_079507.1:p.Thr2Ile, XP_016866813.1:p.Thr2Ile, NP_001307486.1:p.Thr2Ile, NP_001307484.1:p.Thr2Ile, NP_001307487.1:p.Thr2Ile, NP_001307485.1:p.Thr2Ile, XP_047275334.1:p.Thr2Ile, XP_047275335.1:p.Thr2Ile

Select item 14737009708.

rs1473700970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28129635 (GRCh38)
6:28097413 (GRCh37)
Canonical SPDI:: NC_000006.12:28129634:T:C
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.28129635T>C, NC_000006.11:g.28097413T>C, NM_025231.3:c.732T>C, NM_025231.2:c.732T>C, NM_025231.1:c.732T>C, XM_017011324.2:c.732T>C, XM_017011324.1:c.732T>C, NM_001320557.2:c.*202T>C, NM_001320557.1:c.*202T>C, NM_001320555.2:c.732T>C, NM_001320555.1:c.732T>C, NM_001320556.2:c.645T>C, NM_001320556.1:c.645T>C, XM_047419378.1:c.*202T>C, XM_047419379.1:c.*202T>C

Select item 14703280079.

rs1470328007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28129863 (GRCh38)
6:28097641 (GRCh37)
Canonical SPDI:: NC_000006.12:28129862:T:C
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28129863T>C, NC_000006.11:g.28097641T>C, NM_025231.3:c.960T>C, NM_025231.2:c.960T>C, NM_025231.1:c.960T>C, XM_017011324.2:c.960T>C, XM_017011324.1:c.960T>C, NM_001320557.2:c.*430T>C, NM_001320557.1:c.*430T>C, NM_001320555.2:c.960T>C, NM_001320555.1:c.960T>C, NM_001320556.2:c.873T>C, NM_001320556.1:c.873T>C, XM_047419378.1:c.*430T>C, XM_047419379.1:c.*430T>C

Select item 145768330610.

rs1457683306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28125729 (GRCh38)
6:28093507 (GRCh37)
Canonical SPDI:: NC_000006.12:28125728:G:A
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28125729G>A, NC_000006.11:g.28093507G>A, NM_025231.3:c.286G>A, NM_025231.2:c.286G>A, NM_025231.1:c.286G>A, XM_017011324.2:c.286G>A, XM_017011324.1:c.286G>A, NM_001320557.2:c.286G>A, NM_001320557.1:c.286G>A, NM_001320555.2:c.286G>A, NM_001320555.1:c.286G>A, NM_001320558.2:c.286G>A, NM_001320558.1:c.286G>A, NM_001320556.2:c.286G>A, NM_001320556.1:c.286G>A, NR_103455.1:n.663C>T, XM_047419378.1:c.286G>A, XM_047419379.1:c.286G>A, NP_079507.1:p.Asp96Asn, XP_016866813.1:p.Asp96Asn, NP_001307486.1:p.Asp96Asn, NP_001307484.1:p.Asp96Asn, NP_001307487.1:p.Asp96Asn, NP_001307485.1:p.Asp96Asn, XP_047275334.1:p.Asp96Asn, XP_047275335.1:p.Asp96Asn

Select item 145662694611.

rs1456626946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:28129556 (GRCh38)
6:28097334 (GRCh37)
Canonical SPDI:: NC_000006.12:28129555:A:C
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28129556A>C, NC_000006.11:g.28097334A>C, NM_025231.3:c.653A>C, NM_025231.2:c.653A>C, NM_025231.1:c.653A>C, XM_017011324.2:c.653A>C, XM_017011324.1:c.653A>C, NM_001320557.2:c.*123A>C, NM_001320557.1:c.*123A>C, NM_001320555.2:c.653A>C, NM_001320555.1:c.653A>C, NM_001320556.2:c.566A>C, NM_001320556.1:c.566A>C, XM_047419378.1:c.*123A>C, XM_047419379.1:c.*123A>C, NP_079507.1:p.Asp218Ala, XP_016866813.1:p.Asp218Ala, NP_001307484.1:p.Asp218Ala, NP_001307485.1:p.Asp189Ala

Select item 145090218612.

rs1450902186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:28129602 (GRCh38)
6:28097380 (GRCh37)
Canonical SPDI:: NC_000006.12:28129601:A:C,NC_000006.12:28129601:A:G
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28129602A>C, NC_000006.12:g.28129602A>G, NC_000006.11:g.28097380A>C, NC_000006.11:g.28097380A>G, NM_025231.3:c.699A>C, NM_025231.3:c.699A>G, NM_025231.2:c.699A>C, NM_025231.2:c.699A>G, NM_025231.1:c.699A>C, NM_025231.1:c.699A>G, XM_017011324.2:c.699A>C, XM_017011324.2:c.699A>G, XM_017011324.1:c.699A>C, XM_017011324.1:c.699A>G, NM_001320557.2:c.*169A>C, NM_001320557.2:c.*169A>G, NM_001320557.1:c.*169A>C, NM_001320557.1:c.*169A>G, NM_001320555.2:c.699A>C, NM_001320555.2:c.699A>G, NM_001320555.1:c.699A>C, NM_001320555.1:c.699A>G, NM_001320556.2:c.612A>C, NM_001320556.2:c.612A>G, NM_001320556.1:c.612A>C, NM_001320556.1:c.612A>G, XM_047419378.1:c.*169A>C, XM_047419378.1:c.*169A>G, XM_047419379.1:c.*169A>C, XM_047419379.1:c.*169A>G, NP_079507.1:p.Arg233Ser, XP_016866813.1:p.Arg233Ser, NP_001307484.1:p.Arg233Ser, NP_001307485.1:p.Arg204Ser

Select item 145034132813.

rs1450341328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:28129784 (GRCh38)
6:28097562 (GRCh37)
Canonical SPDI:: NC_000006.12:28129783:G:C
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000006.12:g.28129784G>C, NC_000006.11:g.28097562G>C, NM_025231.3:c.881G>C, NM_025231.2:c.881G>C, NM_025231.1:c.881G>C, XM_017011324.2:c.881G>C, XM_017011324.1:c.881G>C, NM_001320557.2:c.*351G>C, NM_001320557.1:c.*351G>C, NM_001320555.2:c.881G>C, NM_001320555.1:c.881G>C, NM_001320556.2:c.794G>C, NM_001320556.1:c.794G>C, XM_047419378.1:c.*351G>C, XM_047419379.1:c.*351G>C, NP_079507.1:p.Cys294Ser, XP_016866813.1:p.Cys294Ser, NP_001307484.1:p.Cys294Ser, NP_001307485.1:p.Cys265Ser

Select item 144618586114.

rs1446185861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28125698 (GRCh38)
6:28093476 (GRCh37)
Canonical SPDI:: NC_000006.12:28125697:G:A
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28125698G>A, NC_000006.11:g.28093476G>A, NM_025231.3:c.255G>A, NM_025231.2:c.255G>A, NM_025231.1:c.255G>A, XM_017011324.2:c.255G>A, XM_017011324.1:c.255G>A, NM_001320557.2:c.255G>A, NM_001320557.1:c.255G>A, NM_001320555.2:c.255G>A, NM_001320555.1:c.255G>A, NM_001320558.2:c.255G>A, NM_001320558.1:c.255G>A, NM_001320556.2:c.255G>A, NM_001320556.1:c.255G>A, NR_103455.1:n.694C>T, XM_047419378.1:c.255G>A, XM_047419379.1:c.255G>A

Select item 144407875315.

rs1444078753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28125487 (GRCh38)
6:28093265 (GRCh37)
Canonical SPDI:: NC_000006.12:28125486:T:C
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28125487T>C, NC_000006.11:g.28093265T>C, NM_025231.3:c.44T>C, NM_025231.2:c.44T>C, NM_025231.1:c.44T>C, XM_017011324.2:c.44T>C, XM_017011324.1:c.44T>C, NM_001320557.2:c.44T>C, NM_001320557.1:c.44T>C, NM_001320555.2:c.44T>C, NM_001320555.1:c.44T>C, NM_001320558.2:c.44T>C, NM_001320558.1:c.44T>C, NM_001320556.2:c.44T>C, NM_001320556.1:c.44T>C, XM_047419378.1:c.44T>C, XM_047419379.1:c.44T>C, NP_079507.1:p.Ile15Thr, XP_016866813.1:p.Ile15Thr, NP_001307486.1:p.Ile15Thr, NP_001307484.1:p.Ile15Thr, NP_001307487.1:p.Ile15Thr, NP_001307485.1:p.Ile15Thr, XP_047275334.1:p.Ile15Thr, XP_047275335.1:p.Ile15Thr

Select item 144106085316.

rs1441060853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28126921 (GRCh38)
6:28094699 (GRCh37)
Canonical SPDI:: NC_000006.12:28126920:G:A
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28126921G>A, NC_000006.11:g.28094699G>A, NM_025231.3:c.526G>A, NM_025231.2:c.526G>A, NM_025231.1:c.526G>A, XM_017011324.2:c.526G>A, XM_017011324.1:c.526G>A, NM_001320557.2:c.526G>A, NM_001320557.1:c.526G>A, NM_001320555.2:c.526G>A, NM_001320555.1:c.526G>A, NM_001320558.2:c.526G>A, NM_001320558.1:c.526G>A, NM_001320556.2:c.439G>A, NM_001320556.1:c.439G>A, XM_047419378.1:c.526G>A, XM_047419379.1:c.526G>A, NP_079507.1:p.Gly176Ser, XP_016866813.1:p.Gly176Ser, NP_001307486.1:p.Gly176Ser, NP_001307484.1:p.Gly176Ser, NP_001307487.1:p.Gly176Ser, NP_001307485.1:p.Gly147Ser, XP_047275334.1:p.Gly176Ser, XP_047275335.1:p.Gly176Ser

Select item 143826300017.

rs1438263000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28125678 (GRCh38)
6:28093456 (GRCh37)
Canonical SPDI:: NC_000006.12:28125677:C:T
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28125678C>T, NC_000006.11:g.28093456C>T, NM_025231.3:c.235C>T, NM_025231.2:c.235C>T, NM_025231.1:c.235C>T, XM_017011324.2:c.235C>T, XM_017011324.1:c.235C>T, NM_001320557.2:c.235C>T, NM_001320557.1:c.235C>T, NM_001320555.2:c.235C>T, NM_001320555.1:c.235C>T, NM_001320558.2:c.235C>T, NM_001320558.1:c.235C>T, NM_001320556.2:c.235C>T, NM_001320556.1:c.235C>T, NR_103455.1:n.714G>A, XM_047419378.1:c.235C>T, XM_047419379.1:c.235C>T, NP_079507.1:p.Gln79Ter, XP_016866813.1:p.Gln79Ter, NP_001307486.1:p.Gln79Ter, NP_001307484.1:p.Gln79Ter, NP_001307487.1:p.Gln79Ter, NP_001307485.1:p.Gln79Ter, XP_047275334.1:p.Gln79Ter, XP_047275335.1:p.Gln79Ter

Select item 143785035418.

rs1437850354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28129937 (GRCh38)
6:28097715 (GRCh37)
Canonical SPDI:: NC_000006.12:28129936:A:G
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28129937A>G, NC_000006.11:g.28097715A>G, NM_025231.3:c.1034A>G, NM_025231.2:c.1034A>G, NM_025231.1:c.1034A>G, XM_017011324.2:c.1034A>G, XM_017011324.1:c.1034A>G, NM_001320557.2:c.*504A>G, NM_001320557.1:c.*504A>G, NM_001320555.2:c.1034A>G, NM_001320555.1:c.1034A>G, NM_001320556.2:c.947A>G, NM_001320556.1:c.947A>G, XM_047419378.1:c.*504A>G, XM_047419379.1:c.*504A>G, NP_079507.1:p.Asn345Ser, XP_016866813.1:p.Asn345Ser, NP_001307484.1:p.Asn345Ser, NP_001307485.1:p.Asn316Ser

Select item 143650940619.

rs1436509406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28125725 (GRCh38)
6:28093503 (GRCh37)
Canonical SPDI:: NC_000006.12:28125724:T:C
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28125725T>C, NC_000006.11:g.28093503T>C, NM_025231.3:c.282T>C, NM_025231.2:c.282T>C, NM_025231.1:c.282T>C, XM_017011324.2:c.282T>C, XM_017011324.1:c.282T>C, NM_001320557.2:c.282T>C, NM_001320557.1:c.282T>C, NM_001320555.2:c.282T>C, NM_001320555.1:c.282T>C, NM_001320558.2:c.282T>C, NM_001320558.1:c.282T>C, NM_001320556.2:c.282T>C, NM_001320556.1:c.282T>C, NR_103455.1:n.667A>G, XM_047419378.1:c.282T>C, XM_047419379.1:c.282T>C

Select item 143428928920.

rs1434289289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:28126897 (GRCh38)
6:28094675 (GRCh37)
Canonical SPDI:: NC_000006.12:28126896:G:T
Gene:: ZSCAN16 (Varview), ZSCAN16-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.28126897G>T, NC_000006.11:g.28094675G>T, NM_025231.3:c.502G>T, NM_025231.2:c.502G>T, NM_025231.1:c.502G>T, XM_017011324.2:c.502G>T, XM_017011324.1:c.502G>T, NM_001320557.2:c.502G>T, NM_001320557.1:c.502G>T, NM_001320555.2:c.502G>T, NM_001320555.1:c.502G>T, NM_001320558.2:c.502G>T, NM_001320558.1:c.502G>T, NM_001320556.2:c.415G>T, NM_001320556.1:c.415G>T, XM_047419378.1:c.502G>T, XM_047419379.1:c.502G>T, NP_079507.1:p.Glu168Ter, XP_016866813.1:p.Glu168Ter, NP_001307486.1:p.Glu168Ter, NP_001307484.1:p.Glu168Ter, NP_001307487.1:p.Glu168Ter, NP_001307485.1:p.Glu139Ter, XP_047275334.1:p.Glu168Ter, XP_047275335.1:p.Glu168Ter

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 270

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity