SNP Links for Protein (Select 94721263) - SNP

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Links from Protein

Items: 1 to 20 of 607

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Select item 14897337161.

rs1489733716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:32239031 (GRCh38)
5:32239137 (GRCh37)
Canonical SPDI:: NC_000005.10:32239030:G:A
Gene:: MTMR12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.32239031G>A, NC_000005.9:g.32239137G>A, NM_001040446.3:c.1314C>T, NM_001040446.2:c.1314C>T, NM_001040446.1:c.1314C>T, NM_019061.2:c.1314C>T, NM_001294343.2:c.1314C>T, NM_001294343.1:c.1314C>T, NM_001294344.2:c.1314C>T, NM_001294344.1:c.1314C>T, NM_019061.1:c.1314C>T

Select item 14886252352.

rs1488625235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32312798 (GRCh38)
5:32312904 (GRCh37)
Canonical SPDI:: NC_000005.10:32312797:T:C
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32312798T>C, NC_000005.9:g.32312904T>C, NM_001040446.3:c.41A>G, NM_001040446.2:c.41A>G, NM_001040446.1:c.41A>G, NM_019061.2:c.41A>G, NM_001294343.2:c.41A>G, NM_001294343.1:c.41A>G, NM_001294344.2:c.41A>G, NM_001294344.1:c.41A>G, NM_019061.1:c.41A>G, NP_001035536.1:p.Lys14Arg, NP_001281272.1:p.Lys14Arg, NP_001281273.1:p.Lys14Arg

Select item 14866785063.

rs1486678506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:32229869 (GRCh38)
5:32229975 (GRCh37)
Canonical SPDI:: NC_000005.10:32229868:G:A
Gene:: MTMR12 (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)
HGVS:: NC_000005.10:g.32229869G>A, NC_000005.9:g.32229975G>A, NM_001040446.3:c.2153C>T, NM_001040446.2:c.2153C>T, NM_001040446.1:c.2153C>T, NM_019061.2:c.2153C>T, NM_001294343.2:c.1991C>T, NM_001294343.1:c.1991C>T, NM_001294344.2:c.1823C>T, NM_001294344.1:c.1823C>T, NM_019061.1:c.1823C>T, NP_001035536.1:p.Pro718Leu, NP_001281272.1:p.Pro664Leu, NP_001281273.1:p.Pro608Leu

Select item 14820292084.

rs1482029208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:32263167 (GRCh38)
5:32263273 (GRCh37)
Canonical SPDI:: NC_000005.10:32263166:C:G,NC_000005.10:32263166:C:T
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.32263167C>G, NC_000005.10:g.32263167C>T, NC_000005.9:g.32263273C>G, NC_000005.9:g.32263273C>T, NM_001040446.3:c.659G>C, NM_001040446.3:c.659G>A, NM_001040446.2:c.659G>C, NM_001040446.2:c.659G>A, NM_001040446.1:c.659G>C, NM_001040446.1:c.659G>A, NM_019061.2:c.659G>C, NM_019061.2:c.659G>A, NM_001294343.2:c.659G>C, NM_001294343.2:c.659G>A, NM_001294343.1:c.659G>C, NM_001294343.1:c.659G>A, NM_001294344.2:c.659G>C, NM_001294344.2:c.659G>A, NM_001294344.1:c.659G>C, NM_001294344.1:c.659G>A, NM_019061.1:c.659G>C, NM_019061.1:c.659G>A, NP_001035536.1:p.Gly220Ala, NP_001035536.1:p.Gly220Asp, NP_001281272.1:p.Gly220Ala, NP_001281272.1:p.Gly220Asp, NP_001281273.1:p.Gly220Ala, NP_001281273.1:p.Gly220Asp

Select item 14790841005.

rs1479084100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32276719 (GRCh38)
5:32276825 (GRCh37)
Canonical SPDI:: NC_000005.10:32276718:T:C
Gene:: MTMR12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32276719T>C, NC_000005.9:g.32276825T>C, NM_001040446.3:c.105A>G, NM_001040446.2:c.105A>G, NM_001040446.1:c.105A>G, NM_019061.2:c.105A>G, NM_001294343.2:c.105A>G, NM_001294343.1:c.105A>G, NM_001294344.2:c.105A>G, NM_001294344.1:c.105A>G, NM_019061.1:c.105A>G

Select item 14776763726.

rs1477676372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32242097 (GRCh38)
5:32242203 (GRCh37)
Canonical SPDI:: NC_000005.10:32242096:T:C
Gene:: MTMR12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32242097T>C, NC_000005.9:g.32242203T>C, NM_001040446.3:c.1131A>G, NM_001040446.2:c.1131A>G, NM_001040446.1:c.1131A>G, NM_019061.2:c.1131A>G, NM_001294343.2:c.1131A>G, NM_001294343.1:c.1131A>G, NM_001294344.2:c.1131A>G, NM_001294344.1:c.1131A>G, NM_019061.1:c.1131A>G

Select item 14772524357.

rs1477252435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:32263196 (GRCh38)
5:32263302 (GRCh37)
Canonical SPDI:: NC_000005.10:32263195:G:C
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_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_000005.10:g.32263196G>C, NC_000005.9:g.32263302G>C, NM_001040446.3:c.630C>G, NM_001040446.2:c.630C>G, NM_001040446.1:c.630C>G, NM_019061.2:c.630C>G, NM_001294343.2:c.630C>G, NM_001294343.1:c.630C>G, NM_001294344.2:c.630C>G, NM_001294344.1:c.630C>G, NM_019061.1:c.630C>G, NP_001035536.1:p.Asp210Glu, NP_001281272.1:p.Asp210Glu, NP_001281273.1:p.Asp210Glu

Select item 14758114368.

rs1475811436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:32268749 (GRCh38)
5:32268855 (GRCh37)
Canonical SPDI:: NC_000005.10:32268748:T:G
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32268749T>G, NC_000005.9:g.32268855T>G, NM_001040446.3:c.535A>C, NM_001040446.2:c.535A>C, NM_001040446.1:c.535A>C, NM_019061.2:c.535A>C, NM_001294343.2:c.535A>C, NM_001294343.1:c.535A>C, NM_001294344.2:c.535A>C, NM_001294344.1:c.535A>C, NM_019061.1:c.535A>C, NP_001035536.1:p.Lys179Gln, NP_001281272.1:p.Lys179Gln, NP_001281273.1:p.Lys179Gln

Select item 14744036869.

rs1474403686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:32233876 (GRCh38)
5:32233982 (GRCh37)
Canonical SPDI:: NC_000005.10:32233875:C:A
Gene:: MTMR12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32233876C>A, NC_000005.9:g.32233982C>A, NG_064653.1:g.399C>A, NM_001040446.3:c.1571G>T, NM_001040446.2:c.1571G>T, NM_001040446.1:c.1571G>T, NM_019061.2:c.1571G>T, NP_001035536.1:p.Trp524Leu

Select item 147388959610.

rs1473889596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32270837 (GRCh38)
5:32270943 (GRCh37)
Canonical SPDI:: NC_000005.10:32270836:T:C
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.32270837T>C, NC_000005.9:g.32270943T>C, NM_001040446.3:c.469A>G, NM_001040446.2:c.469A>G, NM_001040446.1:c.469A>G, NM_019061.2:c.469A>G, NM_001294343.2:c.469A>G, NM_001294343.1:c.469A>G, NM_001294344.2:c.469A>G, NM_001294344.1:c.469A>G, NM_019061.1:c.469A>G, NP_001035536.1:p.Lys157Glu, NP_001281272.1:p.Lys157Glu, NP_001281273.1:p.Lys157Glu

Select item 147346191311.

rs1473461913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:32235030 (GRCh38)
5:32235136 (GRCh37)
Canonical SPDI:: NC_000005.10:32235029:C:G
Gene:: MTMR12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000005.10:g.32235030C>G, NC_000005.9:g.32235136C>G, NM_001040446.3:c.1444G>C, NM_001040446.2:c.1444G>C, NM_001040446.1:c.1444G>C, NM_019061.2:c.1444G>C, NM_001294343.2:c.1444G>C, NM_001294343.1:c.1444G>C, NP_001035536.1:p.Asp482His, NP_001281272.1:p.Asp482His

Select item 146872121312.

rs1468721213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32235006 (GRCh38)
5:32235112 (GRCh37)
Canonical SPDI:: NC_000005.10:32235005:T:C
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.32235006T>C, NC_000005.9:g.32235112T>C, NM_001040446.3:c.1468A>G, NM_001040446.2:c.1468A>G, NM_001040446.1:c.1468A>G, NM_019061.2:c.1468A>G, NM_001294343.2:c.1468A>G, NM_001294343.1:c.1468A>G, NP_001035536.1:p.Ser490Gly, NP_001281272.1:p.Ser490Gly

Select item 146862461813.

rs1468624618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:32229952 (GRCh38)
5:32230058 (GRCh37)
Canonical SPDI:: NC_000005.10:32229951:A:G
Gene:: MTMR12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32229952A>G, NC_000005.9:g.32230058A>G, NM_001040446.3:c.2070T>C, NM_001040446.2:c.2070T>C, NM_001040446.1:c.2070T>C, NM_019061.2:c.2070T>C, NM_001294343.2:c.1908T>C, NM_001294343.1:c.1908T>C, NM_001294344.2:c.1740T>C, NM_001294344.1:c.1740T>C, NM_019061.1:c.1740T>C

Select item 146800400914.

rs1468004009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:32263225 (GRCh38)
5:32263331 (GRCh37)
Canonical SPDI:: NC_000005.10:32263224:G:C
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.32263225G>C, NC_000005.9:g.32263331G>C, NM_001040446.3:c.601C>G, NM_001040446.2:c.601C>G, NM_001040446.1:c.601C>G, NM_019061.2:c.601C>G, NM_001294343.2:c.601C>G, NM_001294343.1:c.601C>G, NM_001294344.2:c.601C>G, NM_001294344.1:c.601C>G, NM_019061.1:c.601C>G, NP_001035536.1:p.His201Asp, NP_001281272.1:p.His201Asp, NP_001281273.1:p.His201Asp

Select item 146576516615.

rs1465765166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:32239137 (GRCh38)
5:32239243 (GRCh37)
Canonical SPDI:: NC_000005.10:32239136:G:C
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32239137G>C, NC_000005.9:g.32239243G>C, NM_001040446.3:c.1208C>G, NM_001040446.2:c.1208C>G, NM_001040446.1:c.1208C>G, NM_019061.2:c.1208C>G, NM_001294343.2:c.1208C>G, NM_001294343.1:c.1208C>G, NM_001294344.2:c.1208C>G, NM_001294344.1:c.1208C>G, NM_019061.1:c.1208C>G, NP_001035536.1:p.Ser403Cys, NP_001281272.1:p.Ser403Cys, NP_001281273.1:p.Ser403Cys

Select item 146354527516.

rs1463545275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:32268717 (GRCh38)
5:32268823 (GRCh37)
Canonical SPDI:: NC_000005.10:32268716:A:T
Gene:: MTMR12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32268717A>T, NC_000005.9:g.32268823A>T, NM_001040446.3:c.567T>A, NM_001040446.2:c.567T>A, NM_001040446.1:c.567T>A, NM_019061.2:c.567T>A, NM_001294343.2:c.567T>A, NM_001294343.1:c.567T>A, NM_001294344.2:c.567T>A, NM_001294344.1:c.567T>A, NM_019061.1:c.567T>A

Select item 146350635017.

rs1463506350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32243591 (GRCh38)
5:32243697 (GRCh37)
Canonical SPDI:: NC_000005.10:32243590:T:C
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32243591T>C, NC_000005.9:g.32243697T>C, NM_001040446.3:c.1030A>G, NM_001040446.2:c.1030A>G, NM_001040446.1:c.1030A>G, NM_019061.2:c.1030A>G, NM_001294343.2:c.1030A>G, NM_001294343.1:c.1030A>G, NM_001294344.2:c.1030A>G, NM_001294344.1:c.1030A>G, NM_019061.1:c.1030A>G, NP_001035536.1:p.Thr344Ala, NP_001281272.1:p.Thr344Ala, NP_001281273.1:p.Thr344Ala

Select item 146243726118.

rs1462437261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:32270937 (GRCh38)
5:32271043 (GRCh37)
Canonical SPDI:: NC_000005.10:32270936:C:A
Gene:: MTMR12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.32270937C>A, NC_000005.9:g.32271043C>A, NM_001040446.3:c.369G>T, NM_001040446.2:c.369G>T, NM_001040446.1:c.369G>T, NM_019061.2:c.369G>T, NM_001294343.2:c.369G>T, NM_001294343.1:c.369G>T, NM_001294344.2:c.369G>T, NM_001294344.1:c.369G>T, NM_019061.1:c.369G>T, NP_001035536.1:p.Glu123Asp, NP_001281272.1:p.Glu123Asp, NP_001281273.1:p.Glu123Asp

Select item 146171302019.

rs1461713020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:32229922 (GRCh38)
5:32230028 (GRCh37)
Canonical SPDI:: NC_000005.10:32229921:G:A
Gene:: MTMR12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.32229922G>A, NC_000005.9:g.32230028G>A, NM_001040446.3:c.2100C>T, NM_001040446.2:c.2100C>T, NM_001040446.1:c.2100C>T, NM_019061.2:c.2100C>T, NM_001294343.2:c.1938C>T, NM_001294343.1:c.1938C>T, NM_001294344.2:c.1770C>T, NM_001294344.1:c.1770C>T, NM_019061.1:c.1770C>T

Select item 146146303020.

rs1461463030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:32312761 (GRCh38)
5:32312867 (GRCh37)
Canonical SPDI:: NC_000005.10:32312760:A:G
Gene:: MTMR12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.32312761A>G, NC_000005.9:g.32312867A>G, NM_001040446.3:c.78T>C, NM_001040446.2:c.78T>C, NM_001040446.1:c.78T>C, NM_019061.2:c.78T>C, NM_001294343.2:c.78T>C, NM_001294343.1:c.78T>C, NM_001294344.2:c.78T>C, NM_001294344.1:c.78T>C, NM_019061.1:c.78T>C

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