SNP Links for Protein (Select 55749577) - SNP

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Links from Protein

Items: 1 to 20 of 249

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Select item 14898957551.

rs1489895755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:185144856 (GRCh38)
4:186066010 (GRCh37)
Canonical SPDI:: NC_000004.12:185144855:C:G,NC_000004.12:185144855:C:T
Gene:: SLC25A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185144856C>G, NC_000004.12:g.185144856C>T, NC_000004.11:g.186066010C>G, NC_000004.11:g.186066010C>T, NG_013001.1:g.6594C>G, NG_013001.1:g.6594C>T, NM_001151.4:c.204C>G, NM_001151.4:c.204C>T, NM_001151.3:c.204C>G, NM_001151.3:c.204C>T

Select item 14866589902.

rs1486658990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:185143396 (GRCh38)
4:186064550 (GRCh37)
Canonical SPDI:: NC_000004.12:185143395:C:A
Gene:: SLC25A4 (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)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185143396C>A, NC_000004.11:g.186064550C>A, NG_013001.1:g.5134C>A, NM_001151.4:c.24C>A, NM_001151.3:c.24C>A, NP_001142.2:p.Phe8Leu

Select item 14841168803.

rs1484116880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:185145833 (GRCh38)
4:186066987 (GRCh37)
Canonical SPDI:: NC_000004.12:185145832:G:C
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185145833G>C, NC_000004.11:g.186066987G>C, NG_013001.1:g.7571G>C, NM_001151.4:c.673G>C, NM_001151.3:c.673G>C, NP_001142.2:p.Gly225Arg

Select item 14780202944.

rs1478020294 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 4:185144930 (GRCh38)
4:186066084 (GRCh37)
Canonical SPDI:: NC_000004.12:185144929:A:
Gene:: SLC25A4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.185144930del, NC_000004.11:g.186066084del, NG_013001.1:g.6668del, NM_001151.4:c.278del, NM_001151.3:c.278del, NP_001142.2:p.Asp93fs

Select item 14766207235.

rs1476620723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185146907 (GRCh38)
4:186068061 (GRCh37)
Canonical SPDI:: NC_000004.12:185146906:T:C
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001342/6 (ALFA)
C=0.000029/4 (GnomAD)
C=0.001339/6 (Estonian)
HGVS:: NC_000004.12:g.185146907T>C, NC_000004.11:g.186068061T>C, NG_013001.1:g.8645T>C, NM_001151.4:c.833T>C, NM_001151.3:c.833T>C, NP_001142.2:p.Val278Ala

Select item 14745162096.

rs1474516209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185146840 (GRCh38)
4:186067994 (GRCh37)
Canonical SPDI:: NC_000004.12:185146839:G:A
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185146840G>A, NC_000004.11:g.186067994G>A, NG_013001.1:g.8578G>A, NM_001151.4:c.766G>A, NM_001151.3:c.766G>A, NP_001142.2:p.Asp256Asn

Select item 14735155567.

rs1473515556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185146838 (GRCh38)
4:186067992 (GRCh37)
Canonical SPDI:: NC_000004.12:185146837:T:C
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.185146838T>C, NC_000004.11:g.186067992T>C, NG_013001.1:g.8576T>C, NM_001151.4:c.764T>C, NM_001151.3:c.764T>C, NP_001142.2:p.Val255Ala

Select item 14682124578.

rs1468212457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:185145097 (GRCh38)
4:186066251 (GRCh37)
Canonical SPDI:: NC_000004.12:185145096:G:A,NC_000004.12:185145096:G:T
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000035/1 (TOMMO)
A=0.00004/10 (GnomAD_exomes)
A=0.000107/15 (GnomAD)
A=0.00014/37 (TOPMED)
T=0.000546/1 (Korea1K)
T=0.003425/10 (KOREAN)
HGVS:: NC_000004.12:g.185145097G>A, NC_000004.12:g.185145097G>T, NC_000004.11:g.186066251G>A, NC_000004.11:g.186066251G>T, NG_013001.1:g.6835G>A, NG_013001.1:g.6835G>T, NM_001151.4:c.445G>A, NM_001151.4:c.445G>T, NM_001151.3:c.445G>A, NM_001151.3:c.445G>T, NP_001142.2:p.Ala149Thr, NP_001142.2:p.Ala149Ser

Select item 14663960369.

rs1466396036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:185145195 (GRCh38)
4:186066349 (GRCh37)
Canonical SPDI:: NC_000004.12:185145194:C:A,NC_000004.12:185145194:C:G
Gene:: SLC25A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.0038/11 (KOREAN)
HGVS:: NC_000004.12:g.185145195C>A, NC_000004.12:g.185145195C>G, NC_000004.11:g.186066349C>A, NC_000004.11:g.186066349C>G, NG_013001.1:g.6933C>A, NG_013001.1:g.6933C>G, NM_001151.4:c.543C>A, NM_001151.4:c.543C>G, NM_001151.3:c.543C>A, NM_001151.3:c.543C>G

Select item 146584780610.

rs1465847806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185145874 (GRCh38)
4:186067028 (GRCh37)
Canonical SPDI:: NC_000004.12:185145873:G:A
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.185145874G>A, NC_000004.11:g.186067028G>A, NG_013001.1:g.7612G>A, NM_001151.4:c.714G>A, NM_001151.3:c.714G>A, NP_001142.2:p.Met238Ile

Select item 146188247111.

rs1461882471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185145787 (GRCh38)
4:186066941 (GRCh37)
Canonical SPDI:: NC_000004.12:185145786:C:T
Gene:: SLC25A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185145787C>T, NC_000004.11:g.186066941C>T, NG_013001.1:g.7525C>T, NM_001151.4:c.627C>T, NM_001151.3:c.627C>T

Select item 146138128012.

rs1461381280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185143420 (GRCh38)
4:186064574 (GRCh37)
Canonical SPDI:: NC_000004.12:185143419:C:T
Gene:: SLC25A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000142/2 (TOMMO)
T=0.000697/2 (KOREAN)
HGVS:: NC_000004.12:g.185143420C>T, NC_000004.11:g.186064574C>T, NG_013001.1:g.5158C>T, NM_001151.4:c.48C>T, NM_001151.3:c.48C>T

Select item 146019112613.

rs1460191126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:185145817 (GRCh38)
4:186066971 (GRCh37)
Canonical SPDI:: NC_000004.12:185145816:T:A
Gene:: SLC25A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.185145817T>A, NC_000004.11:g.186066971T>A, NG_013001.1:g.7555T>A, NM_001151.4:c.657T>A, NM_001151.3:c.657T>A, NP_001142.2:p.Ser219Arg

Select item 145555422214.

rs1455554222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185143430 (GRCh38)
4:186064584 (GRCh37)
Canonical SPDI:: NC_000004.12:185143429:G:A
Gene:: SLC25A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185143430G>A, NC_000004.11:g.186064584G>A, NG_013001.1:g.5168G>A, NM_001151.4:c.58G>A, NM_001151.3:c.58G>A, NP_001142.2:p.Ala20Thr

Select item 145097179015.

rs1450971790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:185143433 (GRCh38)
4:186064587 (GRCh37)
Canonical SPDI:: NC_000004.12:185143432:G:T
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185143433G>T, NC_000004.11:g.186064587G>T, NG_013001.1:g.5171G>T, NM_001151.4:c.61G>T, NM_001151.3:c.61G>T, NP_001142.2:p.Val21Phe

Select item 145055568216.

rs1450555682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185145000 (GRCh38)
4:186066154 (GRCh37)
Canonical SPDI:: NC_000004.12:185144999:C:T
Gene:: SLC25A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185145000C>T, NC_000004.11:g.186066154C>T, NG_013001.1:g.6738C>T, NM_001151.4:c.348C>T, NM_001151.3:c.348C>T

Select item 144522620517.

rs1445226205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185145118 (GRCh38)
4:186066272 (GRCh37)
Canonical SPDI:: NC_000004.12:185145117:G:A
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185145118G>A, NC_000004.11:g.186066272G>A, NG_013001.1:g.6856G>A, NM_001151.4:c.466G>A, NM_001151.3:c.466G>A, NP_001142.2:p.Gly156Ser

Select item 144260399418.

rs1442603994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:185143408 (GRCh38)
4:186064562 (GRCh37)
Canonical SPDI:: NC_000004.12:185143407:C:A,NC_000004.12:185143407:C:T
Gene:: SLC25A4 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.185143408C>A, NC_000004.12:g.185143408C>T, NC_000004.11:g.186064562C>A, NC_000004.11:g.186064562C>T, NG_013001.1:g.5146C>A, NG_013001.1:g.5146C>T, NM_001151.4:c.36C>A, NM_001151.4:c.36C>T, NM_001151.3:c.36C>A, NM_001151.3:c.36C>T, NP_001142.2:p.Phe12Leu

Select item 143898154019.

rs1438981540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185143422 (GRCh38)
4:186064576 (GRCh37)
Canonical SPDI:: NC_000004.12:185143421:T:C
Gene:: SLC25A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.185143422T>C, NC_000004.11:g.186064576T>C, NG_013001.1:g.5160T>C, NM_001151.4:c.50T>C, NM_001151.3:c.50T>C, NP_001142.2:p.Val17Ala

Select item 143796285220.

rs1437962852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185145021 (GRCh38)
4:186066175 (GRCh37)
Canonical SPDI:: NC_000004.12:185145020:T:C
Gene:: SLC25A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.185145021T>C, NC_000004.11:g.186066175T>C, NG_013001.1:g.6759T>C, NM_001151.4:c.369T>C, NM_001151.3:c.369T>C

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