SNP Links for Protein (Select 14249398) - SNP

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Links from Protein

Items: 1 to 20 of 43

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Select item 14621206631.

rs1462120663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41467584 (GRCh38)
22:41863588 (GRCh37)
Canonical SPDI:: NC_000022.11:41467583:T:C
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.41467584T>C, NC_000022.10:g.41863588T>C, NG_032143.1:g.3460T>C, NM_032758.4:c.107A>G, NM_032758.3:c.107A>G, NP_116147.1:p.Tyr36Cys

Select item 14620093992.

rs1462009399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41467540 (GRCh38)
22:41863544 (GRCh37)
Canonical SPDI:: NC_000022.11:41467539:A:G
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.41467540A>G, NC_000022.10:g.41863544A>G, NG_032143.1:g.3416A>G, NM_032758.4:c.151T>C, NM_032758.3:c.151T>C, NP_116147.1:p.Tyr51His

Select item 14254722613.

rs1425472261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41467583 (GRCh38)
22:41863587 (GRCh37)
Canonical SPDI:: NC_000022.11:41467582:A:G
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.41467583A>G, NC_000022.10:g.41863587A>G, NG_032143.1:g.3459A>G, NM_032758.4:c.108T>C, NM_032758.3:c.108T>C

Select item 14034042894.

rs1403404289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41467520 (GRCh38)
22:41863524 (GRCh37)
Canonical SPDI:: NC_000022.11:41467519:G:A
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41467520G>A, NC_000022.10:g.41863524G>A, NG_032143.1:g.3396G>A, NM_032758.4:c.171C>T, NM_032758.3:c.171C>T

Select item 13720024155.

rs1372002415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41467547 (GRCh38)
22:41863551 (GRCh37)
Canonical SPDI:: NC_000022.11:41467546:C:G
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41467547C>G, NC_000022.10:g.41863551C>G, NG_032143.1:g.3423C>G, NM_032758.4:c.144G>C, NM_032758.3:c.144G>C, NP_116147.1:p.Glu48Asp

Select item 13364744416.

rs1336474441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41467452 (GRCh38)
22:41863456 (GRCh37)
Canonical SPDI:: NC_000022.11:41467451:T:C
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_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_000022.11:g.41467452T>C, NC_000022.10:g.41863456T>C, NG_032143.1:g.3328T>C, NM_032758.4:c.239A>G, NM_032758.3:c.239A>G, NP_116147.1:p.Lys80Arg

Select item 13330113097.

rs1333011309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:41467535 (GRCh38)
22:41863539 (GRCh37)
Canonical SPDI:: NC_000022.11:41467534:T:A
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.41467535T>A, NC_000022.10:g.41863539T>A, NG_032143.1:g.3411T>A, NM_032758.4:c.156A>T, NM_032758.3:c.156A>T

Select item 13318943788.

rs1331894378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41467505 (GRCh38)
22:41863509 (GRCh37)
Canonical SPDI:: NC_000022.11:41467504:T:C
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41467505T>C, NC_000022.10:g.41863509T>C, NG_032143.1:g.3381T>C, NM_032758.4:c.186A>G, NM_032758.3:c.186A>G

Select item 13315791759.

rs1331579175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41467561 (GRCh38)
22:41863565 (GRCh37)
Canonical SPDI:: NC_000022.11:41467560:G:A
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.41467561G>A, NC_000022.10:g.41863565G>A, NG_032143.1:g.3437G>A, NM_032758.4:c.130C>T, NM_032758.3:c.130C>T, NP_116147.1:p.Arg44Cys

Select item 132309915210.

rs1323099152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41468612 (GRCh38)
22:41864616 (GRCh37)
Canonical SPDI:: NC_000022.11:41468611:C:T
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41468612C>T, NC_000022.10:g.41864616C>T, NG_032143.1:g.4488C>T, NM_032758.4:c.42G>A, NM_032758.3:c.42G>A

Select item 131937828211.

rs1319378282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41467463 (GRCh38)
22:41863467 (GRCh37)
Canonical SPDI:: NC_000022.11:41467462:G:A
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000022.11:g.41467463G>A, NC_000022.10:g.41863467G>A, NG_032143.1:g.3339G>A, NM_032758.4:c.228C>T, NM_032758.3:c.228C>T

Select item 127360479212.

rs1273604792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41460483 (GRCh38)
22:41856487 (GRCh37)
Canonical SPDI:: NC_000022.11:41460482:T:C
Gene:: PHF5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41460483T>C, NC_000022.10:g.41856487T>C, NM_032758.4:c.248A>G, NM_032758.3:c.248A>G, NP_116147.1:p.Asp83Gly

Select item 127306185613.

rs1273061856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41468629 (GRCh38)
22:41864633 (GRCh37)
Canonical SPDI:: NC_000022.11:41468628:T:C
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000022.11:g.41468629T>C, NC_000022.10:g.41864633T>C, NG_032143.1:g.4505T>C, NM_032758.4:c.25A>G, NM_032758.3:c.25A>G, NP_116147.1:p.Ile9Val

Select item 126453513414.

rs1264535134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:41468636 (GRCh38)
22:41864640 (GRCh37)
Canonical SPDI:: NC_000022.11:41468635:A:C
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41468636A>C, NC_000022.10:g.41864640A>C, NG_032143.1:g.4512A>C, NM_032758.4:c.18T>G, NM_032758.3:c.18T>G

Select item 125474150815.

rs1254741508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41467595 (GRCh38)
22:41863599 (GRCh37)
Canonical SPDI:: NC_000022.11:41467594:A:G
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.00006/1 (TOMMO)
HGVS:: NC_000022.11:g.41467595A>G, NC_000022.10:g.41863599A>G, NG_032143.1:g.3471A>G, NM_032758.4:c.96T>C, NM_032758.3:c.96T>C

Select item 121897009516.

rs1218970095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41468618 (GRCh38)
22:41864622 (GRCh37)
Canonical SPDI:: NC_000022.11:41468617:G:A
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41468618G>A, NC_000022.10:g.41864622G>A, NG_032143.1:g.4494G>A, NM_032758.4:c.36C>T, NM_032758.3:c.36C>T

Select item 117176387117.

rs1171763871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41468633 (GRCh38)
22:41864637 (GRCh37)
Canonical SPDI:: NC_000022.11:41468632:A:G
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41468633A>G, NC_000022.10:g.41864637A>G, NG_032143.1:g.4509A>G, NM_032758.4:c.21T>C, NM_032758.3:c.21T>C

Select item 116816013518.

rs1168160135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41467565 (GRCh38)
22:41863569 (GRCh37)
Canonical SPDI:: NC_000022.11:41467564:C:T
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.41467565C>T, NC_000022.10:g.41863569C>T, NG_032143.1:g.3441C>T, NM_032758.4:c.126G>A, NM_032758.3:c.126G>A

Select item 105722490419.

rs1057224904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:41467586 (GRCh38)
22:41863590 (GRCh37)
Canonical SPDI:: NC_000022.11:41467585:G:C
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41467586G>C, NC_000022.10:g.41863590G>C, NG_032143.1:g.3462G>C, NM_032758.4:c.105C>G, NM_032758.3:c.105C>G

Select item 100883035120.

rs1008830351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:41468609 (GRCh38)
22:41864613 (GRCh37)
Canonical SPDI:: NC_000022.11:41468608:A:T
Gene:: ACO2 (Varview), PHF5A (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.41468609A>T, NC_000022.10:g.41864613A>T, NG_032143.1:g.4485A>T, NM_032758.4:c.45T>A, NM_032758.3:c.45T>A