SNP Links for Protein (Select 195947367) - SNP

Links from Protein

Items: 1 to 20 of 295

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Select item 14852465361.

rs1485246536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:34527744 (GRCh38)
15:34819945 (GRCh37)
Canonical SPDI:: NC_000015.10:34527743:G:C
Gene:: GOLGA8B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34527744G>C, NC_000015.9:g.34819945G>C, NM_001023567.5:c.1700C>G, NM_001023567.4:c.1700C>G, NR_027410.2:n.4138C>G, NR_027410.1:n.4057C>G, NM_015003.1:c.1268C>G, NP_001018861.3:p.Pro567Arg

Select item 14851286432.

rs1485128643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34531354 (GRCh38)
15:34823555 (GRCh37)
Canonical SPDI:: NC_000015.10:34531353:C:T
Gene:: GOLGA8B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00045/10 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34531354C>T, NC_000015.9:g.34823555C>T, NM_001023567.5:c.482G>A, NM_001023567.4:c.482G>A, NR_027410.2:n.2920G>A, NR_027410.1:n.2839G>A, NM_015003.1:c.53G>A, NP_001018861.3:p.Arg161His

Select item 14794329483.

rs1479432948 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:34528461 (GRCh38)
15:34820663 (GRCh37)
Canonical SPDI:: NC_000015.10:34528461:A:AA
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00006/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34528462dup, NC_000015.9:g.34820663dup, NM_001023567.5:c.1262dup, NM_001023567.4:c.1262dup, NR_027410.2:n.3700dup, NR_027410.1:n.3619dup, NM_015003.1:c.830dup, NP_001018861.3:p.Met421fs

Select item 14788967564.

rs1478896756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34528061 (GRCh38)
15:34820262 (GRCh37)
Canonical SPDI:: NC_000015.10:34528060:A:G
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
HGVS:: NC_000015.10:g.34528061A>G, NC_000015.9:g.34820262A>G, NM_001023567.5:c.1470T>C, NM_001023567.4:c.1470T>C, NR_027410.2:n.3908T>C, NR_027410.1:n.3827T>C, NM_015003.1:c.1038T>C

Select item 14779160585.

rs1477916058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34532918 (GRCh38)
15:34825119 (GRCh37)
Canonical SPDI:: NC_000015.10:34532917:G:A
Gene:: GOLGA8B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.34532918G>A, NC_000015.9:g.34825119G>A, NM_001023567.5:c.213C>T, NM_001023567.4:c.213C>T, NR_027410.2:n.2651C>T, NR_027410.1:n.2570C>T

Select item 14747515986.

rs1474751598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:34527669 (GRCh38)
15:34819870 (GRCh37)
Canonical SPDI:: NC_000015.10:34527668:C:A
Gene:: GOLGA8B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0003/3 (ALFA)
HGVS:: NC_000015.10:g.34527669C>A, NC_000015.9:g.34819870C>A, NM_001023567.5:c.1775G>T, NM_001023567.4:c.1775G>T, NR_027410.2:n.4213G>T, NR_027410.1:n.4132G>T, NM_015003.1:c.1343G>T, NP_001018861.3:p.Cys592Phe

Select item 14746535347.

rs1474653534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:34528236 (GRCh38)
15:34820437 (GRCh37)
Canonical SPDI:: NC_000015.10:34528235:G:A,NC_000015.10:34528235:G:C
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.00005/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34528236G>A, NC_000015.10:g.34528236G>C, NC_000015.9:g.34820437G>A, NC_000015.9:g.34820437G>C, NM_001023567.5:c.1406C>T, NM_001023567.5:c.1406C>G, NM_001023567.4:c.1406C>T, NM_001023567.4:c.1406C>G, NR_027410.2:n.3844C>T, NR_027410.2:n.3844C>G, NR_027410.1:n.3763C>T, NR_027410.1:n.3763C>G, NM_015003.1:c.974C>T, NM_015003.1:c.974C>G, NP_001018861.3:p.Pro469Leu, NP_001018861.3:p.Pro469Arg

Select item 14707346358.

rs1470734635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34527743 (GRCh38)
15:34819944 (GRCh37)
Canonical SPDI:: NC_000015.10:34527742:T:C
Gene:: GOLGA8B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00004/4 (GnomAD)
HGVS:: NC_000015.10:g.34527743T>C, NC_000015.9:g.34819944T>C, NM_001023567.5:c.1701A>G, NM_001023567.4:c.1701A>G, NR_027410.2:n.4139A>G, NR_027410.1:n.4058A>G, NM_015003.1:c.1269A>G

Select item 14700963669.

rs1470096366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:34527761 (GRCh38)
15:34819962 (GRCh37)
Canonical SPDI:: NC_000015.10:34527760:G:T
Gene:: GOLGA8B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.34527761G>T, NC_000015.9:g.34819962G>T, NM_001023567.5:c.1683C>A, NM_001023567.4:c.1683C>A, NR_027410.2:n.4121C>A, NR_027410.1:n.4040C>A, NM_015003.1:c.1251C>A, NP_001018861.3:p.Asp561Glu

Select item 146990695510.

rs1469906955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34527653 (GRCh38)
15:34819854 (GRCh37)
Canonical SPDI:: NC_000015.10:34527652:C:T
Gene:: GOLGA8B (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34527653C>T, NC_000015.9:g.34819854C>T, NM_001023567.5:c.1791G>A, NM_001023567.4:c.1791G>A, NR_027410.2:n.4229G>A, NR_027410.1:n.4148G>A, NM_015003.1:c.1359G>A, NP_001018861.3:p.Trp597Ter

Select item 146812740211.

rs1468127402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34528242 (GRCh38)
15:34820443 (GRCh37)
Canonical SPDI:: NC_000015.10:34528241:G:A
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.34528242G>A, NC_000015.9:g.34820443G>A, NM_001023567.5:c.1400C>T, NM_001023567.4:c.1400C>T, NR_027410.2:n.3838C>T, NR_027410.1:n.3757C>T, NM_015003.1:c.968C>T, NP_001018861.3:p.Ala467Val

Select item 146717399612.

rs1467173996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34528043 (GRCh38)
15:34820244 (GRCh37)
Canonical SPDI:: NC_000015.10:34528042:C:T
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
T=0.0001/6 (GnomAD)
HGVS:: NC_000015.10:g.34528043C>T, NC_000015.9:g.34820244C>T, NM_001023567.5:c.1488G>A, NM_001023567.4:c.1488G>A, NR_027410.2:n.3926G>A, NR_027410.1:n.3845G>A, NM_015003.1:c.1056G>A

Select item 145839408913.

rs1458394089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34531295 (GRCh38)
15:34823496 (GRCh37)
Canonical SPDI:: NC_000015.10:34531294:C:T
Gene:: GOLGA8B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02538/301 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.08648/554 (GnomAD_exomes)
T=0.09877/278 (TOMMO)
T=0.15789/6 (Korea1K)
T=0.21053/104 (KOREAN)
HGVS:: NC_000015.10:g.34531295C>T, NC_000015.9:g.34823496C>T, NM_001023567.5:c.541G>A, NM_001023567.4:c.541G>A, NR_027410.2:n.2979G>A, NR_027410.1:n.2898G>A, NM_015003.1:c.112G>A, NP_001018861.3:p.Ala181Thr

Select item 145734734314.

rs1457347343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:34531964 (GRCh38)
15:34824165 (GRCh37)
Canonical SPDI:: NC_000015.10:34531963:T:G
Gene:: GOLGA8B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000015.10:g.34531964T>G, NC_000015.9:g.34824165T>G, NM_001023567.5:c.321A>C, NM_001023567.4:c.321A>C, NR_027410.2:n.2759A>C, NR_027410.1:n.2678A>C, NP_001018861.3:p.Glu107Asp

Select item 145525433915.

rs1455254339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:34528066 (GRCh38)
15:34820267 (GRCh37)
Canonical SPDI:: NC_000015.10:34528065:C:A
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: downstream_transcript_variant,stop_gained,non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.34528066C>A, NC_000015.9:g.34820267C>A, NM_001023567.5:c.1465G>T, NM_001023567.4:c.1465G>T, NR_027410.2:n.3903G>T, NR_027410.1:n.3822G>T, NM_015003.1:c.1033G>T, NP_001018861.3:p.Gly489Ter

Select item 145523556516.

rs1455235565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:34527681 (GRCh38)
15:34819882 (GRCh37)
Canonical SPDI:: NC_000015.10:34527680:C:A
Gene:: GOLGA8B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000047/9 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.34527681C>A, NC_000015.9:g.34819882C>A, NM_001023567.5:c.1763G>T, NM_001023567.4:c.1763G>T, NR_027410.2:n.4201G>T, NR_027410.1:n.4120G>T, NM_015003.1:c.1331G>T, NP_001018861.3:p.Cys588Phe

Select item 145416863917.

rs1454168639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34527819 (GRCh38)
15:34820020 (GRCh37)
Canonical SPDI:: NC_000015.10:34527818:C:T
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.34527819C>T, NC_000015.9:g.34820020C>T, NM_001023567.5:c.1625G>A, NM_001023567.4:c.1625G>A, NR_027410.2:n.4063G>A, NR_027410.1:n.3982G>A, NM_015003.1:c.1193G>A, NP_001018861.3:p.Ser542Asn

Select item 145313018618.

rs1453130186 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTG>- [Show Flanks]
Chromosome:: 15:34532908 (GRCh38)
15:34825109 (GRCh37)
Canonical SPDI:: NC_000015.10:34532905:TGCTTG:TG
Gene:: GOLGA8B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.34532908_34532911del, NC_000015.9:g.34825109_34825112del, NM_001023567.5:c.222_225del, NM_001023567.4:c.222_225del, NR_027410.2:n.2660_2663del, NR_027410.1:n.2579_2582del, NP_001018861.3:p.Ala75fs

Select item 144907912319.

rs1449079123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:34528662 (GRCh38)
15:34820863 (GRCh37)
Canonical SPDI:: NC_000015.10:34528661:G:C
Gene:: GOLGA8B (Varview), MIR1233-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.34528662G>C, NC_000015.9:g.34820863G>C, NM_001023567.5:c.1196C>G, NM_001023567.4:c.1196C>G, NR_027410.2:n.3634C>G, NR_027410.1:n.3553C>G, NM_015003.1:c.764C>G, NP_001018861.3:p.Ser399Trp

Select item 144747066820.

rs1447470668 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 15:34527663 (GRCh38)
15:34819864 (GRCh37)
Canonical SPDI:: NC_000015.10:34527662:C:
Gene:: GOLGA8B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34527663del, NC_000015.9:g.34819864del, NM_001023567.5:c.1781del, NM_001023567.4:c.1781del, NR_027410.2:n.4219del, NR_027410.1:n.4138del, NM_015003.1:c.1349del, NP_001018861.3:p.Cys594fs

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