SNP Links for Protein (Select 768009326) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 529

<< First< Prev

Page of 27

Next >Last >>

Select item 14889672221.

rs1488967222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42763977 (GRCh38)
19:43268129 (GRCh37)
Canonical SPDI:: NC_000019.10:42763976:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42763977G>A, NC_000019.9:g.43268129G>A, NM_182707.3:c.369C>T, NM_182707.2:c.369C>T, NM_001130167.2:c.369C>T, NM_001130167.1:c.369C>T, XM_011526986.2:c.369C>T, XM_011526986.1:c.369C>T

Select item 14863443622.

rs1486344362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42764010 (GRCh38)
19:43268162 (GRCh37)
Canonical SPDI:: NC_000019.10:42764009:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.42764010G>A, NC_000019.9:g.43268162G>A, NM_182707.3:c.336C>T, NM_182707.2:c.336C>T, NM_001130167.2:c.336C>T, NM_001130167.1:c.336C>T, XM_011526986.2:c.336C>T, XM_011526986.1:c.336C>T

Select item 14830610493.

rs1483061049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42758181 (GRCh38)
19:43262333 (GRCh37)
Canonical SPDI:: NC_000019.10:42758180:C:T
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001119/5 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.42758181C>T, NC_000019.9:g.43262333C>T, NM_182707.3:c.530G>A, NM_182707.2:c.530G>A, NM_001130167.2:c.530G>A, NM_001130167.1:c.530G>A, XM_011526986.2:c.530G>A, XM_011526986.1:c.530G>A, NM_001130168.2:c.164G>A, NM_001130168.1:c.164G>A, XM_047438848.1:c.191G>A, XM_047438849.1:c.47G>A, XM_047438850.1:c.164G>A, NP_874366.1:p.Ser177Asn, NP_001123639.1:p.Ser177Asn, XP_011525288.1:p.Ser177Asn, NP_001123640.1:p.Ser55Asn, XP_047294804.1:p.Ser64Asn, XP_047294805.1:p.Ser16Asn, XP_047294806.1:p.Ser55Asn

Select item 14825878744.

rs1482587874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:42764028 (GRCh38)
19:43268180 (GRCh37)
Canonical SPDI:: NC_000019.10:42764027:G:T
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_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_000019.10:g.42764028G>T, NC_000019.9:g.43268180G>T, NM_182707.3:c.318C>A, NM_182707.2:c.318C>A, NM_001130167.2:c.318C>A, NM_001130167.1:c.318C>A, XM_011526986.2:c.318C>A, XM_011526986.1:c.318C>A

Select item 14797900395.

rs1479790039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42754333 (GRCh38)
19:43258485 (GRCh37)
Canonical SPDI:: NC_000019.10:42754332:C:T
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42754333C>T, NC_000019.9:g.43258485C>T, NM_182707.3:c.1243G>A, NM_182707.2:c.1243G>A, NM_001130167.2:c.1243G>A, NM_001130167.1:c.1243G>A, XM_011526986.2:c.964G>A, XM_011526986.1:c.964G>A, NM_001130168.2:c.877G>A, NM_001130168.1:c.877G>A, XM_047438848.1:c.904G>A, XM_047438849.1:c.760G>A, XM_047438850.1:c.598G>A, NP_874366.1:p.Gly415Ser, NP_001123639.1:p.Asp415Asn, XP_011525288.1:p.Asp322Asn, NP_001123640.1:p.Asp293Asn, XP_047294804.1:p.Asp302Asn, XP_047294805.1:p.Asp254Asn, XP_047294806.1:p.Asp200Asn

Select item 14789107036.

rs1478910703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42758149 (GRCh38)
19:43262301 (GRCh37)
Canonical SPDI:: NC_000019.10:42758148:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,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.42758149G>A, NC_000019.9:g.43262301G>A, NM_182707.3:c.562C>T, NM_182707.2:c.562C>T, NM_001130167.2:c.562C>T, NM_001130167.1:c.562C>T, XM_011526986.2:c.562C>T, XM_011526986.1:c.562C>T, NM_001130168.2:c.196C>T, NM_001130168.1:c.196C>T, XM_047438848.1:c.223C>T, XM_047438849.1:c.79C>T, XM_047438850.1:c.196C>T, NP_874366.1:p.Pro188Ser, NP_001123639.1:p.Pro188Ser, XP_011525288.1:p.Pro188Ser, NP_001123640.1:p.Pro66Ser, XP_047294804.1:p.Pro75Ser, XP_047294805.1:p.Pro27Ser, XP_047294806.1:p.Pro66Ser

Select item 14774349397.

rs1477434939 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 19:42764081 (GRCh38)
19:43268234 (GRCh37)
Canonical SPDI:: NC_000019.10:42764081::ACA
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_insertion,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: ACA=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42764081_42764082insACA, NC_000019.9:g.43268233_43268234insACA, NM_182707.3:c.264_265insTGT, NM_182707.2:c.264_265insTGT, NM_001130167.2:c.264_265insTGT, NM_001130167.1:c.264_265insTGT, XM_011526986.2:c.264_265insTGT, XM_011526986.1:c.264_265insTGT, NP_874366.1:p.Ile89_Ile90insCys, NP_001123639.1:p.Ile89_Ile90insCys, XP_011525288.1:p.Ile89_Ile90insCys

Select item 14766448948.

rs1476644894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 19:42764077 (GRCh38)
19:43268230 (GRCh37)
Canonical SPDI:: NC_000019.10:42764077:T:TGT
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: TG=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42764078_42764079insGT, NC_000019.9:g.43268230_43268231insGT, NM_182707.3:c.268_269insCA, NM_182707.2:c.268_269insCA, NM_001130167.2:c.268_269insCA, NM_001130167.1:c.268_269insCA, XM_011526986.2:c.268_269insCA, XM_011526986.1:c.268_269insCA, NP_874366.1:p.Ile90fs, NP_001123639.1:p.Ile90fs, XP_011525288.1:p.Ile90fs

Select item 14754573359.

rs1475457335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:42764149 (GRCh38)
19:43268301 (GRCh37)
Canonical SPDI:: NC_000019.10:42764148:A:C,NC_000019.10:42764148:A:T
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.42764149A>C, NC_000019.10:g.42764149A>T, NC_000019.9:g.43268301A>C, NC_000019.9:g.43268301A>T, NM_182707.3:c.197T>G, NM_182707.3:c.197T>A, NM_182707.2:c.197T>G, NM_182707.2:c.197T>A, NM_001130167.2:c.197T>G, NM_001130167.2:c.197T>A, NM_001130167.1:c.197T>G, NM_001130167.1:c.197T>A, XM_011526986.2:c.197T>G, XM_011526986.2:c.197T>A, XM_011526986.1:c.197T>G, XM_011526986.1:c.197T>A, NP_874366.1:p.Ile66Ser, NP_874366.1:p.Ile66Asn, NP_001123639.1:p.Ile66Ser, NP_001123639.1:p.Ile66Asn, XP_011525288.1:p.Ile66Ser, XP_011525288.1:p.Ile66Asn

Select item 147286038510.

rs1472860385 [Homo sapiens]

Variant type:: DEL
Alleles:: CTGG>- [Show Flanks]
Chromosome:: 19:42764016 (GRCh38)
19:43268168 (GRCh37)
Canonical SPDI:: NC_000019.10:42764015:CTGG:
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.42764016_42764019del, NC_000019.9:g.43268168_43268171del, NM_182707.3:c.327_330del, NM_182707.2:c.327_330del, NM_001130167.2:c.327_330del, NM_001130167.1:c.327_330del, XM_011526986.2:c.327_330del, XM_011526986.1:c.327_330del, NP_874366.1:p.Gln110fs, NP_001123639.1:p.Gln110fs, XP_011525288.1:p.Gln110fs

Select item 147150198311.

rs1471501983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42763952 (GRCh38)
19:43268104 (GRCh37)
Canonical SPDI:: NC_000019.10:42763951:T:C
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42763952T>C, NC_000019.9:g.43268104T>C, NM_182707.3:c.394A>G, NM_182707.2:c.394A>G, NM_001130167.2:c.394A>G, NM_001130167.1:c.394A>G, XM_011526986.2:c.394A>G, XM_011526986.1:c.394A>G, NP_874366.1:p.Arg132Gly, NP_001123639.1:p.Arg132Gly, XP_011525288.1:p.Arg132Gly

Select item 147039232012.

rs1470392320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:42765543 (GRCh38)
19:43269695 (GRCh37)
Canonical SPDI:: NC_000019.10:42765542:G:T
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.42765543G>T, NC_000019.9:g.43269695G>T, NM_182707.3:c.39C>A, NM_182707.2:c.39C>A, NM_001130167.2:c.39C>A, NM_001130167.1:c.39C>A, XM_011526986.2:c.39C>A, XM_011526986.1:c.39C>A, NM_001130168.2:c.39C>A, NM_001130168.1:c.39C>A, XM_047438848.1:c.-261C>A, XM_047438850.1:c.39C>A

Select item 146949788713.

rs1469497887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:42754540 (GRCh38)
19:43258692 (GRCh37)
Canonical SPDI:: NC_000019.10:42754539:A:T
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42754540A>T, NC_000019.9:g.43258692A>T, NM_182707.3:c.1036T>A, NM_182707.2:c.1036T>A, NM_001130167.2:c.1036T>A, NM_001130167.1:c.1036T>A, XM_011526986.2:c.757T>A, XM_011526986.1:c.757T>A, NM_001130168.2:c.670T>A, NM_001130168.1:c.670T>A, XM_047438848.1:c.697T>A, XM_047438849.1:c.553T>A, XM_047438850.1:c.391T>A, NP_874366.1:p.Ser346Thr, NP_001123639.1:p.Ser346Thr, XP_011525288.1:p.Ser253Thr, NP_001123640.1:p.Ser224Thr, XP_047294804.1:p.Ser233Thr, XP_047294805.1:p.Ser185Thr, XP_047294806.1:p.Ser131Thr

Select item 146686567714.

rs1466865677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42763916 (GRCh38)
19:43268068 (GRCh37)
Canonical SPDI:: NC_000019.10:42763915:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.42763916G>A, NC_000019.9:g.43268068G>A, NM_182707.3:c.430C>T, NM_182707.2:c.430C>T, NM_001130167.2:c.430C>T, NM_001130167.1:c.430C>T, XM_011526986.2:c.430C>T, XM_011526986.1:c.430C>T