SNP Links for Protein (Select 7705592) - SNP

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Links from Protein

Items: 1 to 20 of 105

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Select item 14754443501.

rs1475444350 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCT>- [Show Flanks]
Chromosome:: 17:6644499 (GRCh38)
17:6547819 (GRCh37)
Canonical SPDI:: NC_000017.11:6644494:TGCTGCT:TGCT
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TGCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6644496GCT[1], NC_000017.10:g.6547816GCT[1], NG_054885.1:g.1428GCA[1], NM_032731.4:c.*1477GCT[1], NM_032731.3:c.*1477GCT[1], NM_016060.3:c.363GCA[1], NM_016060.2:c.363GCA[1], NP_057144.1:p.Gln125del

Select item 14598694992.

rs1459869499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:6644611 (GRCh38)
17:6547931 (GRCh37)
Canonical SPDI:: NC_000017.11:6644610:G:C,NC_000017.11:6644610:G:T
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6644611G>C, NC_000017.11:g.6644611G>T, NC_000017.10:g.6547931G>C, NC_000017.10:g.6547931G>T, NG_054885.1:g.1317C>G, NG_054885.1:g.1317C>A, NM_016060.3:c.252C>G, NM_016060.3:c.252C>A, NM_016060.2:c.252C>G, NM_016060.2:c.252C>A, NP_057144.1:p.Phe84Leu, NP_057144.1:p.Phe84Leu

Select item 14549336693.

rs1454933669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6644578 (GRCh38)
17:6547898 (GRCh37)
Canonical SPDI:: NC_000017.11:6644577:T:C
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6644578T>C, NC_000017.10:g.6547898T>C, NG_054885.1:g.1350A>G, NM_016060.3:c.285A>G, NM_016060.2:c.285A>G

Select item 14528761294.

rs1452876129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:6650366 (GRCh38)
17:6553687 (GRCh37)
Canonical SPDI:: NC_000017.11:6650366:TTT:TTTT
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6650369dup, NC_000017.10:g.6553689dup, NM_016060.3:c.95dup, NM_016060.2:c.95dup, NP_057144.1:p.Asn32fs

Select item 14479409285.

rs1447940928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6650402 (GRCh38)
17:6553722 (GRCh37)
Canonical SPDI:: NC_000017.11:6650401:C:T
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.6650402C>T, NC_000017.10:g.6553722C>T, NM_016060.3:c.60G>A, NM_016060.2:c.60G>A

Select item 14351131896.

rs1435113189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6650006 (GRCh38)
17:6553326 (GRCh37)
Canonical SPDI:: NC_000017.11:6650005:T:C
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000017.11:g.6650006T>C, NC_000017.10:g.6553326T>C, NM_016060.3:c.179A>G, NM_016060.2:c.179A>G, NP_057144.1:p.Asp60Gly

Select item 14332260587.

rs1433226058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6649996 (GRCh38)
17:6553316 (GRCh37)
Canonical SPDI:: NC_000017.11:6649995:A:G
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.6649996A>G, NC_000017.10:g.6553316A>G, NM_016060.3:c.189T>C, NM_016060.2:c.189T>C

Select item 14168979508.

rs1416897950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:6644590 (GRCh38)
17:6547910 (GRCh37)
Canonical SPDI:: NC_000017.11:6644589:A:C
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6644590A>C, NC_000017.10:g.6547910A>C, NG_054885.1:g.1338T>G, NM_016060.3:c.273T>G, NM_016060.2:c.273T>G

Select item 14129697839.

rs1412969783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6650008 (GRCh38)
17:6553328 (GRCh37)
Canonical SPDI:: NC_000017.11:6650007:T:C
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.6650008T>C, NC_000017.10:g.6553328T>C, NM_016060.3:c.177A>G, NM_016060.2:c.177A>G

Select item 140301436110.

rs1403014361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6650395 (GRCh38)
17:6553715 (GRCh37)
Canonical SPDI:: NC_000017.11:6650394:C:T
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6650395C>T, NC_000017.10:g.6553715C>T, NM_016060.3:c.67G>A, NM_016060.2:c.67G>A, NP_057144.1:p.Glu23Lys

Select item 139219518711.

rs1392195187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6644634 (GRCh38)
17:6547954 (GRCh37)
Canonical SPDI:: NC_000017.11:6644633:C:T
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6644634C>T, NC_000017.10:g.6547954C>T, NG_054885.1:g.1294G>A, NM_016060.3:c.229G>A, NM_016060.2:c.229G>A, NP_057144.1:p.Glu77Lys

Select item 137144832212.

rs1371448322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6644522 (GRCh38)
17:6547842 (GRCh37)
Canonical SPDI:: NC_000017.11:6644521:C:T
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.6644522C>T, NC_000017.10:g.6547842C>T, NG_054885.1:g.1406G>A, NM_032731.4:c.*1503C>T, NM_032731.3:c.*1503C>T, NM_016060.3:c.341G>A, NM_016060.2:c.341G>A, NP_057144.1:p.Arg114His

Select item 136968077113.

rs1369680771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6649985 (GRCh38)
17:6553305 (GRCh37)
Canonical SPDI:: NC_000017.11:6649984:A:G
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.6649985A>G, NC_000017.10:g.6553305A>G, NM_016060.3:c.200T>C, NM_016060.2:c.200T>C, NP_057144.1:p.Leu67Pro

Select item 136947149814.

rs1369471498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:6650412 (GRCh38)
17:6553732 (GRCh37)
Canonical SPDI:: NC_000017.11:6650411:C:A,NC_000017.11:6650411:C:G,NC_000017.11:6650411:C:T
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.6650412C>A, NC_000017.11:g.6650412C>G, NC_000017.11:g.6650412C>T, NC_000017.10:g.6553732C>A, NC_000017.10:g.6553732C>G, NC_000017.10:g.6553732C>T, NM_016060.3:c.50G>T, NM_016060.3:c.50G>C, NM_016060.3:c.50G>A, NM_016060.2:c.50G>T, NM_016060.2:c.50G>C, NM_016060.2:c.50G>A, NP_057144.1:p.Arg17Leu, NP_057144.1:p.Arg17Pro, NP_057144.1:p.Arg17Gln

Select item 136253438415.

rs1362534384 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAG>- [Show Flanks]
Chromosome:: 17:6650020 (GRCh38)
17:6553340 (GRCh37)
Canonical SPDI:: NC_000017.11:6650016:AAGCAAG:AAG
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAG=0.000132/2 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.6650020_6650023del, NC_000017.10:g.6553340_6553343del, NM_016060.3:c.165_168del, NM_016060.2:c.165_168del, NP_057144.1:p.Leu55fs

Select item 135490256116.

rs1354902561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:6650005 (GRCh38)
17:6553325 (GRCh37)
Canonical SPDI:: NC_000017.11:6650004:G:C,NC_000017.11:6650004:G:T
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6650005G>C, NC_000017.11:g.6650005G>T, NC_000017.10:g.6553325G>C, NC_000017.10:g.6553325G>T, NM_016060.3:c.180C>G, NM_016060.3:c.180C>A, NM_016060.2:c.180C>G, NM_016060.2:c.180C>A, NP_057144.1:p.Asp60Glu, NP_057144.1:p.Asp60Glu

Select item 134363259317.

rs1343632593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:6644486 (GRCh38)
17:6547806 (GRCh37)
Canonical SPDI:: NC_000017.11:6644485:T:C
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6644486T>C, NC_000017.10:g.6547806T>C, NG_054885.1:g.1442A>G, NM_032731.4:c.*1467T>C, NM_032731.3:c.*1467T>C, NM_016060.3:c.377A>G, NM_016060.2:c.377A>G, NP_057144.1:p.Asn126Ser

Select item 134153847818.

rs1341538478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6644609 (GRCh38)
17:6547929 (GRCh37)
Canonical SPDI:: NC_000017.11:6644608:C:T
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.6644609C>T, NC_000017.10:g.6547929C>T, NG_054885.1:g.1319G>A, NM_016060.3:c.254G>A, NM_016060.2:c.254G>A, NP_057144.1:p.Arg85Gln

Select item 133616934819.

rs1336169348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6650023 (GRCh38)
17:6553343 (GRCh37)
Canonical SPDI:: NC_000017.11:6650022:G:A
Gene:: MED31 (Varview), C17orf100 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6650023G>A, NC_000017.10:g.6553343G>A, NM_016060.3:c.162C>T, NM_016060.2:c.162C>T

Select item 132777330420.

rs1327773304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6644614 (GRCh38)
17:6547934 (GRCh37)
Canonical SPDI:: NC_000017.11:6644613:G:A
Gene:: MED31 (Varview), TXNDC17 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.6644614G>A, NC_000017.10:g.6547934G>A, NG_054885.1:g.1314C>T, NM_016060.3:c.249C>T, NM_016060.2:c.249C>T