SNP Links for Protein (Select 1024249311) - SNP

Links from Protein

Items: 1 to 20 of 231

<< First< Prev

Page of 12

Next >Last >>

Select item 14902851251.

rs1490285125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:68488627 (GRCh38)
10:70248384 (GRCh37)
Canonical SPDI:: NC_000010.11:68488626:C:A,NC_000010.11:68488626:C:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.68488627C>A, NC_000010.11:g.68488627C>T, NC_000010.10:g.70248384C>A, NC_000010.10:g.70248384C>T, NG_046972.1:g.43897G>T, NG_046972.1:g.43897G>A, NM_152707.4:c.613G>T, NM_152707.4:c.613G>A, NM_152707.3:c.613G>T, NM_152707.3:c.613G>A, NM_001324314.2:c.319G>T, NM_001324314.2:c.319G>A, NM_001324314.1:c.319G>T, NM_001324314.1:c.319G>A, NM_001324317.2:c.211G>T, NM_001324317.2:c.211G>A, NM_001324317.1:c.211G>T, NM_001324317.1:c.211G>A, NM_001324312.2:c.613G>T, NM_001324312.2:c.613G>A, NM_001324312.1:c.613G>T, NM_001324312.1:c.613G>A, NM_001324313.2:c.613G>T, NM_001324313.2:c.613G>A, NM_001324313.1:c.613G>T, NM_001324313.1:c.613G>A, NM_001324315.1:c.319G>T, NM_001324315.1:c.319G>A, NR_136737.1:n.1496G>T, NR_136737.1:n.1496G>A, NM_005673.1:c.613G>T, NM_005673.1:c.613G>A, NP_689920.1:p.Val205Phe, NP_689920.1:p.Val205Ile, NP_001311243.1:p.Val107Phe, NP_001311243.1:p.Val107Ile, NP_001311246.1:p.Val71Phe, NP_001311246.1:p.Val71Ile, NP_001311241.1:p.Val205Phe, NP_001311241.1:p.Val205Ile, NP_001311242.1:p.Val205Phe, NP_001311242.1:p.Val205Ile, NP_001311244.1:p.Val107Phe, NP_001311244.1:p.Val107Ile

Select item 14851499922.

rs1485149992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:68488604 (GRCh38)
10:70248361 (GRCh37)
Canonical SPDI:: NC_000010.11:68488603:G:A
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000028/7 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.68488604G>A, NC_000010.10:g.70248361G>A, NG_046972.1:g.43920C>T, NM_152707.4:c.636C>T, NM_152707.3:c.636C>T, NM_001324314.2:c.342C>T, NM_001324314.1:c.342C>T, NM_001324317.2:c.234C>T, NM_001324317.1:c.234C>T, NM_001324312.2:c.636C>T, NM_001324312.1:c.636C>T, NM_001324313.2:c.636C>T, NM_001324313.1:c.636C>T, NM_001324315.1:c.342C>T, NR_136737.1:n.1519C>T, NM_005673.1:c.636C>T

Select item 14843293123.

rs1484329312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:68483438 (GRCh38)
10:70243195 (GRCh37)
Canonical SPDI:: NC_000010.11:68483437:G:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0004/2 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000010.11:g.68483438G>T, NC_000010.10:g.70243195G>T, NG_046972.1:g.49086C>A, NM_152707.4:c.993C>A, NM_152707.3:c.993C>A, NM_001324314.2:c.699C>A, NM_001324314.1:c.699C>A, NM_001324317.2:c.591C>A, NM_001324317.1:c.591C>A, NM_001324312.2:c.*73C>A, NM_001324312.1:c.*73C>A, NM_001324315.1:c.699C>A, NR_136737.1:n.1876C>A, NM_005673.1:c.993C>A

Select item 14837083464.

rs1483708346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:68483435 (GRCh38)
10:70243192 (GRCh37)
Canonical SPDI:: NC_000010.11:68483434:G:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0004/2 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000010.11:g.68483435G>T, NC_000010.10:g.70243192G>T, NG_046972.1:g.49089C>A, NM_152707.4:c.996C>A, NM_152707.3:c.996C>A, NM_001324314.2:c.702C>A, NM_001324314.1:c.702C>A, NM_001324317.2:c.594C>A, NM_001324317.1:c.594C>A, NM_001324312.2:c.*76C>A, NM_001324312.1:c.*76C>A, NM_001324315.1:c.702C>A, NR_136737.1:n.1879C>A, NM_005673.1:c.996C>A, NP_689920.1:p.Asn332Lys, NP_001311243.1:p.Asn234Lys, NP_001311246.1:p.Asn198Lys, NP_001311244.1:p.Asn234Lys

Select item 14802409445.

rs1480240944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:68506620 (GRCh38)
10:70266377 (GRCh37)
Canonical SPDI:: NC_000010.11:68506619:C:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.68506620C>T, NC_000010.10:g.70266377C>T, NG_046972.1:g.25904G>A, NM_152707.4:c.322G>A, NM_152707.3:c.322G>A, NM_001324314.2:c.28G>A, NM_001324314.1:c.28G>A, NM_001324312.2:c.322G>A, NM_001324312.1:c.322G>A, NM_001324313.2:c.322G>A, NM_001324313.1:c.322G>A, NM_001324315.1:c.28G>A, NR_136737.1:n.1327G>A, NM_005673.1:c.322G>A, NP_689920.1:p.Ala108Thr, NP_001311243.1:p.Ala10Thr, NP_001311241.1:p.Ala108Thr, NP_001311242.1:p.Ala108Thr, NP_001311244.1:p.Ala10Thr

Select item 14802092206.

rs1480209220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:68488543 (GRCh38)
10:70248300 (GRCh37)
Canonical SPDI:: NC_000010.11:68488542:G:A
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.68488543G>A, NC_000010.10:g.70248300G>A, NG_046972.1:g.43981C>T, NM_152707.4:c.697C>T, NM_152707.3:c.697C>T, NM_001324314.2:c.403C>T, NM_001324314.1:c.403C>T, NM_001324317.2:c.295C>T, NM_001324317.1:c.295C>T, NM_001324312.2:c.697C>T, NM_001324312.1:c.697C>T, NM_001324313.2:c.697C>T, NM_001324313.1:c.697C>T, NM_001324315.1:c.403C>T, NR_136737.1:n.1580C>T, NM_005673.1:c.697C>T, NP_689920.1:p.Pro233Ser, NP_001311243.1:p.Pro135Ser, NP_001311246.1:p.Pro99Ser, NP_001311241.1:p.Pro233Ser, NP_001311242.1:p.Pro233Ser, NP_001311244.1:p.Pro135Ser

Select item 14765897517.

rs1476589751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:68503657 (GRCh38)
10:70263414 (GRCh37)
Canonical SPDI:: NC_000010.11:68503656:G:A
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.68503657G>A, NC_000010.10:g.70263414G>A, NG_046972.1:g.28867C>T, NM_152707.4:c.396C>T, NM_152707.3:c.396C>T, NM_001324314.2:c.102C>T, NM_001324314.1:c.102C>T, NM_001324317.2:c.-7C>T, NM_001324317.1:c.-7C>T, NM_001324312.2:c.396C>T, NM_001324312.1:c.396C>T, NM_001324313.2:c.396C>T, NM_001324313.1:c.396C>T, NM_001324315.1:c.102C>T, NR_136737.1:n.1401C>T, NM_005673.1:c.396C>T

Select item 14651377608.

rs1465137760 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:68503658 (GRCh38)
10:70263415 (GRCh37)
Canonical SPDI:: NC_000010.11:68503655:TGTG:TG
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.68503656TG[1], NC_000010.10:g.70263413TG[1], NG_046972.1:g.28865CA[1], NM_152707.4:c.396_397del, NM_152707.3:c.396_397del, NM_001324314.2:c.102_103del, NM_001324314.1:c.102_103del, NM_001324317.2:c.-9CA[1], NM_001324317.1:c.-9CA[1], NM_001324312.2:c.396_397del, NM_001324312.1:c.396_397del, NM_001324313.2:c.396_397del, NM_001324313.1:c.396_397del, NM_001324315.1:c.102_103del, NR_136737.1:n.1399CA[1], NM_005673.1:c.396_397del, NP_689920.1:p.His132fs, NP_001311243.1:p.His34fs, NP_001311241.1:p.His132fs, NP_001311242.1:p.His132fs, NP_001311244.1:p.His34fs

Select item 14649354669.

rs1464935466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:68488482 (GRCh38)
10:70248239 (GRCh37)
Canonical SPDI:: NC_000010.11:68488481:A:G
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000010.11:g.68488482A>G, NC_000010.10:g.70248239A>G, NG_046972.1:g.44042T>C, NM_152707.4:c.758T>C, NM_152707.3:c.758T>C, NM_001324314.2:c.464T>C, NM_001324314.1:c.464T>C, NM_001324317.2:c.356T>C, NM_001324317.1:c.356T>C, NM_001324312.2:c.758T>C, NM_001324312.1:c.758T>C, NM_001324313.2:c.758T>C, NM_001324313.1:c.758T>C, NM_001324315.1:c.464T>C, NR_136737.1:n.1641T>C, NM_005673.1:c.758T>C, NP_689920.1:p.Ile253Thr, NP_001311243.1:p.Ile155Thr, NP_001311246.1:p.Ile119Thr, NP_001311241.1:p.Ile253Thr, NP_001311242.1:p.Ile253Thr, NP_001311244.1:p.Ile155Thr

Select item 146428719810.

rs1464287198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:68503664 (GRCh38)
10:70263421 (GRCh37)
Canonical SPDI:: NC_000010.11:68503663:T:C
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_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_000010.11:g.68503664T>C, NC_000010.10:g.70263421T>C, NG_046972.1:g.28860A>G, NM_152707.4:c.389A>G, NM_152707.3:c.389A>G, NM_001324314.2:c.95A>G, NM_001324314.1:c.95A>G, NM_001324317.2:c.-14A>G, NM_001324317.1:c.-14A>G, NM_001324312.2:c.389A>G, NM_001324312.1:c.389A>G, NM_001324313.2:c.389A>G, NM_001324313.1:c.389A>G, NM_001324315.1:c.95A>G, NR_136737.1:n.1394A>G, NM_005673.1:c.389A>G, NP_689920.1:p.His130Arg, NP_001311243.1:p.His32Arg, NP_001311241.1:p.His130Arg, NP_001311242.1:p.His130Arg, NP_001311244.1:p.His32Arg

Select item 146019856611.

rs1460198566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:68483523 (GRCh38)
10:70243280 (GRCh37)
Canonical SPDI:: NC_000010.11:68483522:C:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.68483523C>T, NC_000010.10:g.70243280C>T, NG_046972.1:g.49001G>A, NM_152707.4:c.908G>A, NM_152707.3:c.908G>A, NM_001324314.2:c.614G>A, NM_001324314.1:c.614G>A, NM_001324317.2:c.506G>A, NM_001324317.1:c.506G>A, NM_001324312.2:c.936G>A, NM_001324312.1:c.936G>A, NM_001324315.1:c.614G>A, NR_136737.1:n.1791G>A, NM_005673.1:c.908G>A, NP_689920.1:p.Gly303Asp, NP_001311243.1:p.Gly205Asp, NP_001311246.1:p.Gly169Asp, NP_001311241.1:p.Trp312Ter, NP_001311244.1:p.Gly205Asp

Select item 144853399812.

rs1448533998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:68483470 (GRCh38)
10:70243227 (GRCh37)
Canonical SPDI:: NC_000010.11:68483469:T:C
Gene:: SLC25A16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.68483470T>C, NC_000010.10:g.70243227T>C, NG_046972.1:g.49054A>G, NM_152707.4:c.961A>G, NM_152707.3:c.961A>G, NM_001324314.2:c.667A>G, NM_001324314.1:c.667A>G, NM_001324317.2:c.559A>G, NM_001324317.1:c.559A>G, NM_001324312.2:c.*41A>G, NM_001324312.1:c.*41A>G, NM_001324315.1:c.667A>G, NR_136737.1:n.1844A>G, NM_005673.1:c.961A>G, NP_689920.1:p.Thr321Ala, NP_001311243.1:p.Thr223Ala, NP_001311246.1:p.Thr187Ala, NP_001311244.1:p.Thr223Ala

Select item 144631791513.

rs1446317915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:68493476 (GRCh38)
10:70253233 (GRCh37)
Canonical SPDI:: NC_000010.11:68493475:A:C
Gene:: SLC25A16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.68493476A>C, NC_000010.10:g.70253233A>C, NG_046972.1:g.39048T>G, NM_152707.4:c.516T>G, NM_152707.3:c.516T>G, NM_001324314.2:c.222T>G, NM_001324314.1:c.222T>G, NM_001324317.2:c.114T>G, NM_001324317.1:c.114T>G, NM_001324312.2:c.516T>G, NM_001324312.1:c.516T>G, NM_001324313.2:c.516T>G, NM_001324313.1:c.516T>G, NM_001324315.1:c.222T>G, NM_005673.1:c.516T>G, NP_689920.1:p.Ile172Met, NP_001311243.1:p.Ile74Met, NP_001311246.1:p.Ile38Met, NP_001311241.1:p.Ile172Met, NP_001311242.1:p.Ile172Met, NP_001311244.1:p.Ile74Met

Select item 143391291614.

rs1433912916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:68506585 (GRCh38)
10:70266342 (GRCh37)
Canonical SPDI:: NC_000010.11:68506584:C:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.68506585C>T, NC_000010.10:g.70266342C>T, NG_046972.1:g.25939G>A, NM_152707.4:c.357G>A, NM_152707.3:c.357G>A, NM_001324314.2:c.63G>A, NM_001324314.1:c.63G>A, NM_001324312.2:c.357G>A, NM_001324312.1:c.357G>A, NM_001324313.2:c.357G>A, NM_001324313.1:c.357G>A, NM_001324315.1:c.63G>A, NR_136737.1:n.1362G>A, NM_005673.1:c.357G>A

Select item 143272026215.

rs1432720262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:68506605 (GRCh38)
10:70266362 (GRCh37)
Canonical SPDI:: NC_000010.11:68506604:C:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.68506605C>T, NC_000010.10:g.70266362C>T, NG_046972.1:g.25919G>A, NM_152707.4:c.337G>A, NM_152707.3:c.337G>A, NM_001324314.2:c.43G>A, NM_001324314.1:c.43G>A, NM_001324312.2:c.337G>A, NM_001324312.1:c.337G>A, NM_001324313.2:c.337G>A, NM_001324313.1:c.337G>A, NM_001324315.1:c.43G>A, NR_136737.1:n.1342G>A, NM_005673.1:c.337G>A, NP_689920.1:p.Ala113Thr, NP_001311243.1:p.Ala15Thr, NP_001311241.1:p.Ala113Thr, NP_001311242.1:p.Ala113Thr, NP_001311244.1:p.Ala15Thr

Select item 143138305616.

rs1431383056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:68503684 (GRCh38)
10:70263441 (GRCh37)
Canonical SPDI:: NC_000010.11:68503683:C:T
Gene:: SLC25A16 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.68503684C>T, NC_000010.10:g.70263441C>T, NG_046972.1:g.28840G>A, NM_152707.4:c.369G>A, NM_152707.3:c.369G>A, NM_001324314.2:c.75G>A, NM_001324314.1:c.75G>A, NM_001324317.2:c.-34G>A, NM_001324317.1:c.-34G>A, NM_001324312.2:c.369G>A, NM_001324312.1:c.369G>A, NM_001324313.2:c.369G>A, NM_001324313.1:c.369G>A, NM_001324315.1:c.75G>A, NR_136737.1:n.1374G>A, NM_005673.1:c.369G>A

Select item 143066828617.

rs1430668286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:68493453 (GRCh38)
10:70253210 (GRCh37)
Canonical SPDI:: NC_000010.11:68493452:G:A
Gene:: SLC25A16 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.68493453G>A, NC_000010.10:g.70253210G>A, NG_046972.1:g.39071C>T, NM_152707.4:c.539C>T, NM_152707.3:c.539C>T, NM_001324314.2:c.245C>T, NM_001324314.1:c.245C>T, NM_001324317.2:c.137C>T, NM_001324317.1:c.137C>T, NM_001324312.2:c.539C>T, NM_001324312.1:c.539C>T, NM_001324313.2:c.539C>T, NM_001324313.1:c.539C>T, NM_001324315.1:c.245C>T, NM_005673.1:c.539C>T, NP_689920.1:p.Ala180Val, NP_001311243.1:p.Ala82Val, NP_001311246.1:p.Ala46Val, NP_001311241.1:p.Ala180Val, NP_001311242.1:p.Ala180Val, NP_001311244.1:p.Ala82Val

Select item 142521653018.

rs1425216530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:68488507 (GRCh38)
10:70248264 (GRCh37)
Canonical SPDI:: NC_000010.11:68488506:G:A
Gene:: SLC25A16 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.68488507G>A, NC_000010.10:g.70248264G>A, NG_046972.1:g.44017C>T, NM_152707.4:c.733C>T, NM_152707.3:c.733C>T, NM_001324314.2:c.439C>T, NM_001324314.1:c.439C>T, NM_001324317.2:c.331C>T, NM_001324317.1:c.331C>T, NM_001324312.2:c.733C>T, NM_001324312.1:c.733C>T, NM_001324313.2:c.733C>T, NM_001324313.1:c.733C>T, NM_001324315.1:c.439C>T, NR_136737.1:n.1616C>T, NM_005673.1:c.733C>T, NP_689920.1:p.Leu245Phe, NP_001311243.1:p.Leu147Phe, NP_001311246.1:p.Leu111Phe, NP_001311241.1:p.Leu245Phe, NP_001311242.1:p.Leu245Phe, NP_001311244.1:p.Leu147Phe

Select item 141392987019.

rs1413929870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:68487156 (GRCh38)
10:70246913 (GRCh37)
Canonical SPDI:: NC_000010.11:68487155:A:G
Gene:: SLC25A16 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.68487156A>G, NC_000010.10:g.70246913A>G, NG_046972.1:g.45368T>C, NM_152707.4:c.830T>C, NM_152707.3:c.830T>C, NM_001324314.2:c.536T>C, NM_001324314.1:c.536T>C, NM_001324317.2:c.428T>C, NM_001324317.1:c.428T>C, NM_001324312.2:c.830T>C, NM_001324312.1:c.830T>C, NM_001324313.2:c.830T>C, NM_001324313.1:c.830T>C, NM_001324315.1:c.536T>C, NR_136737.1:n.1713T>C, NM_005673.1:c.830T>C, NP_689920.1:p.Phe277Ser, NP_001311243.1:p.Phe179Ser, NP_001311246.1:p.Phe143Ser, NP_001311241.1:p.Phe277Ser, NP_001311242.1:p.Phe277Ser, NP_001311244.1:p.Phe179Ser

Select item 141378700520.

rs1413787005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:68506618 (GRCh38)
10:70266375 (GRCh37)
Canonical SPDI:: NC_000010.11:68506617:T:C
Gene:: SLC25A16 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.68506618T>C, NC_000010.10:g.70266375T>C, NG_046972.1:g.25906A>G, NM_152707.4:c.324A>G, NM_152707.3:c.324A>G, NM_001324314.2:c.30A>G, NM_001324314.1:c.30A>G, NM_001324312.2:c.324A>G, NM_001324312.1:c.324A>G, NM_001324313.2:c.324A>G, NM_001324313.1:c.324A>G, NM_001324315.1:c.30A>G, NR_136737.1:n.1329A>G, NM_005673.1:c.324A>G

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 231

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity