SNP Links for Protein (Select 11321583) - SNP

Links from Protein

Items: 1 to 20 of 432

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Select item 14838417951.

rs1483841795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:47988627 (GRCh38)
13:48562762 (GRCh37)
Canonical SPDI:: NC_000013.11:47988626:T:C
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.47988627T>C, NC_000013.10:g.48562762T>C, NG_008241.1:g.17701A>G, NM_003850.3:c.448A>G, NM_003850.2:c.448A>G, NP_003841.1:p.Arg150Gly

Select item 14836159852.

rs1483615985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:47948990 (GRCh38)
13:48523125 (GRCh37)
Canonical SPDI:: NC_000013.11:47948989:T:C
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.47948990T>C, NC_000013.10:g.48523125T>C, NG_008241.1:g.57338A>G, NM_003850.3:c.1267A>G, NM_003850.2:c.1267A>G, NP_003841.1:p.Ser423Gly

Select item 14833294163.

rs1483329416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:47954416 (GRCh38)
13:48528551 (GRCh37)
Canonical SPDI:: NC_000013.11:47954415:T:C
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.47954416T>C, NC_000013.10:g.48528551T>C, NG_008241.1:g.51912A>G, NM_003850.3:c.944A>G, NM_003850.2:c.944A>G, NP_003841.1:p.Asp315Gly

Select item 14821252334.

rs1482125233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:47968678 (GRCh38)
13:48542813 (GRCh37)
Canonical SPDI:: NC_000013.11:47968677:A:G
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.47968678A>G, NC_000013.10:g.48542813A>G, NG_008241.1:g.37650T>C, NM_003850.3:c.719T>C, NM_003850.2:c.719T>C, NP_003841.1:p.Met240Thr

Select item 14818763775.

rs1481876377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:47954476 (GRCh38)
13:48528611 (GRCh37)
Canonical SPDI:: NC_000013.11:47954475:G:A
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000013.11:g.47954476G>A, NC_000013.10:g.48528611G>A, NG_008241.1:g.51852C>T, NM_003850.3:c.884C>T, NM_003850.2:c.884C>T, NP_003841.1:p.Thr295Ile

Select item 14812083976.

rs1481208397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:47954496 (GRCh38)
13:48528631 (GRCh37)
Canonical SPDI:: NC_000013.11:47954495:G:C
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.47954496G>C, NC_000013.10:g.48528631G>C, NG_008241.1:g.51832C>G, NM_003850.3:c.864C>G, NM_003850.2:c.864C>G, NP_003841.1:p.Ile288Met

Select item 14808666157.

rs1480866615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:47949503 (GRCh38)
13:48523638 (GRCh37)
Canonical SPDI:: NC_000013.11:47949502:G:A
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.47949503G>A, NC_000013.10:g.48523638G>A, NG_008241.1:g.56825C>T, NM_003850.3:c.1208C>T, NM_003850.2:c.1208C>T, NP_003841.1:p.Pro403Leu

Select item 14792348188.

rs1479234818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:47996959 (GRCh38)
13:48571094 (GRCh37)
Canonical SPDI:: NC_000013.11:47996958:T:C,NC_000013.11:47996958:T:G
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.47996959T>C, NC_000013.11:g.47996959T>G, NC_000013.10:g.48571094T>C, NC_000013.10:g.48571094T>G, NG_008241.1:g.9369A>G, NG_008241.1:g.9369A>C, NM_003850.3:c.155A>G, NM_003850.3:c.155A>C, NM_003850.2:c.155A>G, NM_003850.2:c.155A>C, NP_003841.1:p.Asn52Ser, NP_003841.1:p.Asn52Thr

Select item 14775959819.

rs1477595981 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48001238 (GRCh38)
13:48575374 (GRCh37)
Canonical SPDI:: NC_000013.11:48001237:A:G
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48001238A>G, NC_000013.10:g.48575374A>G, NG_008241.1:g.5089T>C, NM_003850.3:c.32T>C, NM_003850.2:c.32T>C, NP_003841.1:p.Val11Ala

Select item 147406532210.

rs1474065322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:47943426 (GRCh38)
13:48517561 (GRCh37)
Canonical SPDI:: NC_000013.11:47943425:A:G
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.47943426A>G, NC_000013.10:g.48517561A>G, NG_008241.1:g.62902T>C, NM_003850.3:c.1337T>C, NM_003850.2:c.1337T>C, NP_003841.1:p.Ile446Thr

Select item 147238318511.

rs1472383185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:47968681 (GRCh38)
13:48542816 (GRCh37)
Canonical SPDI:: NC_000013.11:47968680:T:A,NC_000013.11:47968680:T:C
Gene:: SUCLA2 (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_000013.11:g.47968681T>A, NC_000013.11:g.47968681T>C, NC_000013.10:g.48542816T>A, NC_000013.10:g.48542816T>C, NG_008241.1:g.37647A>T, NG_008241.1:g.37647A>G, NM_003850.3:c.716A>T, NM_003850.3:c.716A>G, NM_003850.2:c.716A>T, NM_003850.2:c.716A>G, NP_003841.1:p.Asn239Ile, NP_003841.1:p.Asn239Ser

Select item 147112583912.

rs1471125839 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 13:47954267 (GRCh38)
13:48528403 (GRCh37)
Canonical SPDI:: NC_000013.11:47954267::TT
Gene:: SUCLA2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000013.11:g.47954267_47954268insTT, NC_000013.10:g.48528402_48528403insTT, NG_008241.1:g.52060_52061insAA, NM_003850.3:c.979_980insAA, NM_003850.2:c.979_980insAA, NP_003841.1:p.Leu327Ter

Select item 146543587313.

rs1465435873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:47949581 (GRCh38)
13:48523716 (GRCh37)
Canonical SPDI:: NC_000013.11:47949580:A:T
Gene:: SUCLA2 (Varview)
Functional Consequence:: missense_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_000013.11:g.47949581A>T, NC_000013.10:g.48523716A>T, NG_008241.1:g.56747T>A, NM_003850.3:c.1130T>A, NM_003850.2:c.1130T>A, NP_003841.1:p.Ile377Asn

Select item 146529094714.

rs1465290947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:47988885 (GRCh38)
13:48563020 (GRCh37)
Canonical SPDI:: NC_000013.11:47988884:A:C
Gene:: SUCLA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.47988885A>C, NC_000013.10:g.48563020A>C, NG_008241.1:g.17443T>G, NM_003850.3:c.368T>G, NM_003850.2:c.368T>G, NP_003841.1:p.Phe123Cys

Select item 146438486215.

rs1464384862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:47954257 (GRCh38)
13:48528392 (GRCh37)
Canonical SPDI:: NC_000013.11:47954256:G:T
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000013.11:g.47954257G>T, NC_000013.10:g.48528392G>T, NG_008241.1:g.52071C>A, NM_003850.3:c.990C>A, NM_003850.2:c.990C>A

Select item 146217114616.

rs1462171146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:47954190 (GRCh38)
13:48528325 (GRCh37)
Canonical SPDI:: NC_000013.11:47954189:T:G
Gene:: SUCLA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.47954190T>G, NC_000013.10:g.48528325T>G, NG_008241.1:g.52138A>C, NM_003850.3:c.1057A>C, NM_003850.2:c.1057A>C, NP_003841.1:p.Thr353Pro

Select item 145985004817.

rs1459850048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:47949568 (GRCh38)
13:48523703 (GRCh37)
Canonical SPDI:: NC_000013.11:47949567:G:A
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.47949568G>A, NC_000013.10:g.48523703G>A, NG_008241.1:g.56760C>T, NM_003850.3:c.1143C>T, NM_003850.2:c.1143C>T

Select item 145913598518.

rs1459135985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:47954431 (GRCh38)
13:48528566 (GRCh37)
Canonical SPDI:: NC_000013.11:47954430:T:C
Gene:: SUCLA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.47954431T>C, NC_000013.10:g.48528566T>C, NG_008241.1:g.51897A>G, NM_003850.3:c.929A>G, NM_003850.2:c.929A>G, NP_003841.1:p.Asn310Ser

Select item 145650148519.

rs1456501485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:47988917 (GRCh38)
13:48563052 (GRCh37)
Canonical SPDI:: NC_000013.11:47988916:T:C
Gene:: SUCLA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.47988917T>C, NC_000013.10:g.48563052T>C, NG_008241.1:g.17411A>G, NM_003850.3:c.336A>G, NM_003850.2:c.336A>G

Select item 145399445420.

rs1453994454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:47949022 (GRCh38)
13:48523157 (GRCh37)
Canonical SPDI:: NC_000013.11:47949021:C:T
Gene:: SUCLA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.47949022C>T, NC_000013.10:g.48523157C>T, NG_008241.1:g.57306G>A, NM_003850.3:c.1235G>A, NM_003850.2:c.1235G>A, NP_003841.1:p.Arg412Gln

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