SNP Links for Protein (Select 37693993) - SNP

Links from Protein

Items: 1 to 20 of 280

<< First< Prev

Page of 14

Next >Last >>

Select item 14802396261.

rs1480239626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1770712 (GRCh38)
16:1820713 (GRCh37)
Canonical SPDI:: NC_000016.10:1770711:G:A,NC_000016.10:1770711:G:C
Gene:: NME3 (Varview), MAPK8IP3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000015/3 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.1770712G>A, NC_000016.10:g.1770712G>C, NC_000016.9:g.1820713G>A, NC_000016.9:g.1820713G>C, XM_005255332.5:c.439C>T, XM_005255332.5:c.439C>G, XM_005255332.4:c.439C>T, XM_005255332.4:c.439C>G, XM_005255332.3:c.439C>T, XM_005255332.3:c.439C>G, XM_005255332.2:c.439C>T, XM_005255332.2:c.439C>G, XM_005255332.1:c.439C>T, XM_005255332.1:c.439C>G, XM_011522504.3:c.*47C>T, XM_011522504.3:c.*47C>G, XM_011522504.2:c.*47C>T, XM_011522504.2:c.*47C>G, XM_011522504.1:c.*47C>T, XM_011522504.1:c.*47C>G, XM_011522503.3:c.450C>T, XM_011522503.3:c.450C>G, XM_011522503.2:c.450C>T, XM_011522503.2:c.450C>G, XM_011522503.1:c.450C>T, XM_011522503.1:c.450C>G, NM_002513.3:c.447C>T, NM_002513.3:c.447C>G, NM_002513.2:c.447C>T, NM_002513.2:c.447C>G, XP_005255389.1:p.Leu147Val

Select item 14748424162.

rs1474842416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1771352 (GRCh38)
16:1821353 (GRCh37)
Canonical SPDI:: NC_000016.10:1771351:C:T
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.1771352C>T, NC_000016.9:g.1821353C>T, XM_005255332.5:c.105G>A, XM_005255332.4:c.105G>A, XM_005255332.3:c.105G>A, XM_005255332.2:c.105G>A, XM_005255332.1:c.105G>A, XM_011522504.3:c.105G>A, XM_011522504.2:c.105G>A, XM_011522504.1:c.105G>A, XM_011522503.3:c.105G>A, XM_011522503.2:c.105G>A, XM_011522503.1:c.105G>A, NM_002513.3:c.105G>A, NM_002513.2:c.105G>A

Select item 14742156323.

rs1474215632 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:1771368 (GRCh38)
16:1821370 (GRCh37)
Canonical SPDI:: NC_000016.10:1771368::C
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1771368_1771369insC, NC_000016.9:g.1821369_1821370insC, XM_005255332.5:c.88_89insG, XM_005255332.4:c.88_89insG, XM_005255332.3:c.88_89insG, XM_005255332.2:c.88_89insG, XM_005255332.1:c.88_89insG, XM_011522504.3:c.88_89insG, XM_011522504.2:c.88_89insG, XM_011522504.1:c.88_89insG, XM_011522503.3:c.88_89insG, XM_011522503.2:c.88_89insG, XM_011522503.1:c.88_89insG, NM_002513.3:c.88_89insG, NM_002513.2:c.88_89insG, XP_005255389.1:p.Pro30fs, XP_011520806.1:p.Pro30fs, XP_011520805.1:p.Pro30fs, NP_002504.2:p.Pro30fs

Select item 14737033664.

rs1473703366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:1770901 (GRCh38)
16:1820902 (GRCh37)
Canonical SPDI:: NC_000016.10:1770900:A:C
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1770901A>C, NC_000016.9:g.1820902A>C, XM_005255332.5:c.372T>G, XM_005255332.4:c.372T>G, XM_005255332.3:c.372T>G, XM_005255332.2:c.372T>G, XM_005255332.1:c.372T>G, XM_011522504.3:c.383T>G, XM_011522504.2:c.383T>G, XM_011522504.1:c.383T>G, XM_011522503.3:c.383T>G, XM_011522503.2:c.383T>G, XM_011522503.1:c.383T>G, NM_002513.3:c.372T>G, NM_002513.2:c.372T>G, XP_005255389.1:p.Asp124Glu, XP_011520806.1:p.Ile128Ser, XP_011520805.1:p.Ile128Ser, NP_002504.2:p.Asp124Glu

Select item 14721430895.

rs1472143089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1771329 (GRCh38)
16:1821330 (GRCh37)
Canonical SPDI:: NC_000016.10:1771328:C:T
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000698/2 (KOREAN)
HGVS:: NC_000016.10:g.1771329C>T, NC_000016.9:g.1821330C>T, XM_005255332.5:c.128G>A, XM_005255332.4:c.128G>A, XM_005255332.3:c.128G>A, XM_005255332.2:c.128G>A, XM_005255332.1:c.128G>A, XM_011522504.3:c.128G>A, XM_011522504.2:c.128G>A, XM_011522504.1:c.128G>A, XM_011522503.3:c.128G>A, XM_011522503.2:c.128G>A, XM_011522503.1:c.128G>A, NM_002513.3:c.128G>A, NM_002513.2:c.128G>A, XP_005255389.1:p.Arg43Gln, XP_011520806.1:p.Arg43Gln, XP_011520805.1:p.Arg43Gln, NP_002504.2:p.Arg43Gln

Select item 14682075166.

rs1468207516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1771280 (GRCh38)
16:1821281 (GRCh37)
Canonical SPDI:: NC_000016.10:1771279:C:A,NC_000016.10:1771279:C:T
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1771280C>A, NC_000016.10:g.1771280C>T, NC_000016.9:g.1821281C>A, NC_000016.9:g.1821281C>T, XM_005255332.5:c.177G>T, XM_005255332.5:c.177G>A, XM_005255332.4:c.177G>T, XM_005255332.4:c.177G>A, XM_005255332.3:c.177G>T, XM_005255332.3:c.177G>A, XM_005255332.2:c.177G>T, XM_005255332.2:c.177G>A, XM_005255332.1:c.177G>T, XM_005255332.1:c.177G>A, XM_011522504.3:c.177G>T, XM_011522504.3:c.177G>A, XM_011522504.2:c.177G>T, XM_011522504.2:c.177G>A, XM_011522504.1:c.177G>T, XM_011522504.1:c.177G>A, XM_011522503.3:c.177G>T, XM_011522503.3:c.177G>A, XM_011522503.2:c.177G>T, XM_011522503.2:c.177G>A, XM_011522503.1:c.177G>T, XM_011522503.1:c.177G>A, NM_002513.3:c.177G>T, NM_002513.3:c.177G>A, NM_002513.2:c.177G>T, NM_002513.2:c.177G>A, XP_005255389.1:p.Gln59His, XP_011520806.1:p.Gln59His, XP_011520805.1:p.Gln59His, NP_002504.2:p.Gln59His

Select item 14670035557.

rs1467003555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1770962 (GRCh38)
16:1820963 (GRCh37)
Canonical SPDI:: NC_000016.10:1770961:G:A
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1770962G>A, NC_000016.9:g.1820963G>A, XM_005255332.5:c.311C>T, XM_005255332.4:c.311C>T, XM_005255332.3:c.311C>T, XM_005255332.2:c.311C>T, XM_005255332.1:c.311C>T, XM_011522504.3:c.322C>T, XM_011522504.2:c.322C>T, XM_011522504.1:c.322C>T, XM_011522503.3:c.322C>T, XM_011522503.2:c.322C>T, XM_011522503.1:c.322C>T, NM_002513.3:c.311C>T, NM_002513.2:c.311C>T, XP_005255389.1:p.Ser104Leu, XP_011520806.1:p.Arg108Cys, XP_011520805.1:p.Arg108Cys, NP_002504.2:p.Ser104Leu

Select item 14654854238.

rs1465485423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1771160 (GRCh38)
16:1821161 (GRCh37)
Canonical SPDI:: NC_000016.10:1771159:C:T
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1771160C>T, NC_000016.9:g.1821161C>T, XM_005255332.5:c.189G>A, XM_005255332.4:c.189G>A, XM_005255332.3:c.189G>A, XM_005255332.2:c.189G>A, XM_005255332.1:c.189G>A, XM_011522504.3:c.200G>A, XM_011522504.2:c.200G>A, XM_011522504.1:c.200G>A, XM_011522503.3:c.200G>A, XM_011522503.2:c.200G>A, XM_011522503.1:c.200G>A, NM_002513.3:c.189G>A, NM_002513.2:c.189G>A, XP_011520806.1:p.Ser67Asn, XP_011520805.1:p.Ser67Asn

Select item 14632721929.

rs1463272192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1771402 (GRCh38)
16:1821403 (GRCh37)
Canonical SPDI:: NC_000016.10:1771401:C:T
Gene:: NME3 (Varview), MRPS34 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00057/1 (Korea1K)
T=0.00131/22 (TOMMO)
HGVS:: NC_000016.10:g.1771402C>T, NC_000016.9:g.1821403C>T, XM_005255332.5:c.55G>A, XM_005255332.4:c.55G>A, XM_005255332.3:c.55G>A, XM_005255332.2:c.55G>A, XM_005255332.1:c.55G>A, XM_011522504.3:c.55G>A, XM_011522504.2:c.55G>A, XM_011522504.1:c.55G>A, XM_011522503.3:c.55G>A, XM_011522503.2:c.55G>A, XM_011522503.1:c.55G>A, NM_002513.3:c.55G>A, NM_002513.2:c.55G>A, XP_005255389.1:p.Gly19Ser, XP_011520806.1:p.Gly19Ser, XP_011520805.1:p.Gly19Ser, NP_002504.2:p.Gly19Ser

Select item 145715523610.

rs1457155236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1771139 (GRCh38)
16:1821140 (GRCh37)
Canonical SPDI:: NC_000016.10:1771138:G:A,NC_000016.10:1771138:G:C
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000564/1 (Korea1K)
HGVS:: NC_000016.10:g.1771139G>A, NC_000016.10:g.1771139G>C, NC_000016.9:g.1821140G>A, NC_000016.9:g.1821140G>C, XM_005255332.5:c.210C>T, XM_005255332.5:c.210C>G, XM_005255332.4:c.210C>T, XM_005255332.4:c.210C>G, XM_005255332.3:c.210C>T, XM_005255332.3:c.210C>G, XM_005255332.2:c.210C>T, XM_005255332.2:c.210C>G, XM_005255332.1:c.210C>T, XM_005255332.1:c.210C>G, XM_011522504.3:c.221C>T, XM_011522504.3:c.221C>G, XM_011522504.2:c.221C>T, XM_011522504.2:c.221C>G, XM_011522504.1:c.221C>T, XM_011522504.1:c.221C>G, XM_011522503.3:c.221C>T, XM_011522503.3:c.221C>G, XM_011522503.2:c.221C>T, XM_011522503.2:c.221C>G, XM_011522503.1:c.221C>T, XM_011522503.1:c.221C>G, NM_002513.3:c.210C>T, NM_002513.3:c.210C>G, NM_002513.2:c.210C>T, NM_002513.2:c.210C>G, XP_011520806.1:p.Pro74Leu, XP_011520806.1:p.Pro74Arg, XP_011520805.1:p.Pro74Leu, XP_011520805.1:p.Pro74Arg

Select item 145687512211.

rs1456875122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1771109 (GRCh38)
16:1821110 (GRCh37)
Canonical SPDI:: NC_000016.10:1771108:G:A
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1771109G>A, NC_000016.9:g.1821110G>A, XM_005255332.5:c.240C>T, XM_005255332.4:c.240C>T, XM_005255332.3:c.240C>T, XM_005255332.2:c.240C>T, XM_005255332.1:c.240C>T, XM_011522504.3:c.251C>T, XM_011522504.2:c.251C>T, XM_011522504.1:c.251C>T, XM_011522503.3:c.251C>T, XM_011522503.2:c.251C>T, XM_011522503.1:c.251C>T, NM_002513.3:c.240C>T, NM_002513.2:c.240C>T, XP_011520806.1:p.Ala84Val, XP_011520805.1:p.Ala84Val

Select item 145677140112.

rs1456771401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1770940 (GRCh38)
16:1820941 (GRCh37)
Canonical SPDI:: NC_000016.10:1770939:C:G,NC_000016.10:1770939:C:T
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.1770940C>G, NC_000016.10:g.1770940C>T, NC_000016.9:g.1820941C>G, NC_000016.9:g.1820941C>T, XM_005255332.5:c.333G>C, XM_005255332.5:c.333G>A, XM_005255332.4:c.333G>C, XM_005255332.4:c.333G>A, XM_005255332.3:c.333G>C, XM_005255332.3:c.333G>A, XM_005255332.2:c.333G>C, XM_005255332.2:c.333G>A, XM_005255332.1:c.333G>C, XM_005255332.1:c.333G>A, XM_011522504.3:c.344G>C, XM_011522504.3:c.344G>A, XM_011522504.2:c.344G>C, XM_011522504.2:c.344G>A, XM_011522504.1:c.344G>C, XM_011522504.1:c.344G>A, XM_011522503.3:c.344G>C, XM_011522503.3:c.344G>A, XM_011522503.2:c.344G>C, XM_011522503.2:c.344G>A, XM_011522503.1:c.344G>C, XM_011522503.1:c.344G>A, NM_002513.3:c.333G>C, NM_002513.3:c.333G>A, NM_002513.2:c.333G>C, NM_002513.2:c.333G>A, XP_011520806.1:p.Arg115Pro, XP_011520806.1:p.Arg115Gln, XP_011520805.1:p.Arg115Pro, XP_011520805.1:p.Arg115Gln

Select item 145644341113.

rs1456443411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1770685 (GRCh38)
16:1820686 (GRCh37)
Canonical SPDI:: NC_000016.10:1770684:G:A,NC_000016.10:1770684:G:C
Gene:: NME3 (Varview), MAPK8IP3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1770685G>A, NC_000016.10:g.1770685G>C, NC_000016.9:g.1820686G>A, NC_000016.9:g.1820686G>C, XM_005255332.5:c.466C>T, XM_005255332.5:c.466C>G, XM_005255332.4:c.466C>T, XM_005255332.4:c.466C>G, XM_005255332.3:c.466C>T, XM_005255332.3:c.466C>G, XM_005255332.2:c.466C>T, XM_005255332.2:c.466C>G, XM_005255332.1:c.466C>T, XM_005255332.1:c.466C>G, XM_011522504.3:c.*74C>T, XM_011522504.3:c.*74C>G, XM_011522504.2:c.*74C>T, XM_011522504.2:c.*74C>G, XM_011522504.1:c.*74C>T, XM_011522504.1:c.*74C>G, XM_011522503.3:c.477C>T, XM_011522503.3:c.477C>G, XM_011522503.2:c.477C>T, XM_011522503.2:c.477C>G, XM_011522503.1:c.477C>T, XM_011522503.1:c.477C>G, NM_002513.3:c.474C>T, NM_002513.3:c.474C>G, NM_002513.2:c.474C>T, NM_002513.2:c.474C>G, XP_005255389.1:p.Leu156Val, XP_011520805.1:p.Cys159Trp, NP_002504.2:p.Cys158Trp

Select item 145162398914.

rs1451623989 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGT [Show Flanks]
Chromosome:: 16:1771141 (GRCh38)
16:1821143 (GRCh37)
Canonical SPDI:: NC_000016.10:1771141:GTAGT:GTAGTAGT
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: upstream_transcript_variant,inframe_insertion,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GTAGTAGT=0./0 (ALFA)
GTA=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1771144_1771146dup, NC_000016.9:g.1821145_1821147dup, XM_005255332.5:c.205_207dup, XM_005255332.4:c.205_207dup, XM_005255332.3:c.205_207dup, XM_005255332.2:c.205_207dup, XM_005255332.1:c.205_207dup, XM_011522504.3:c.216_218dup, XM_011522504.2:c.216_218dup, XM_011522504.1:c.216_218dup, XM_011522503.3:c.216_218dup, XM_011522503.2:c.216_218dup, XM_011522503.1:c.216_218dup, NM_002513.3:c.205_207dup, NM_002513.2:c.205_207dup, XP_005255389.1:p.Tyr69dup, XP_011520806.1:p.Thr73dup, XP_011520805.1:p.Thr73dup, NP_002504.2:p.Tyr69dup

Select item 144870973515.

rs1448709735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1770925 (GRCh38)
16:1820926 (GRCh37)
Canonical SPDI:: NC_000016.10:1770924:G:A
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,missense_variant
HGVS:: NC_000016.10:g.1770925G>A, NC_000016.9:g.1820926G>A, XM_005255332.5:c.348C>T, XM_005255332.4:c.348C>T, XM_005255332.3:c.348C>T, XM_005255332.2:c.348C>T, XM_005255332.1:c.348C>T, XM_011522504.3:c.359C>T, XM_011522504.2:c.359C>T, XM_011522504.1:c.359C>T, XM_011522503.3:c.359C>T, XM_011522503.2:c.359C>T, XM_011522503.1:c.359C>T, NM_002513.3:c.348C>T, NM_002513.2:c.348C>T, XP_011520806.1:p.Pro120Leu, XP_011520805.1:p.Pro120Leu

Select item 144650508516.

rs1446505085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1771115 (GRCh38)
16:1821116 (GRCh37)
Canonical SPDI:: NC_000016.10:1771114:G:A
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1771115G>A, NC_000016.9:g.1821116G>A, XM_005255332.5:c.234C>T, XM_005255332.4:c.234C>T, XM_005255332.3:c.234C>T, XM_005255332.2:c.234C>T, XM_005255332.1:c.234C>T, XM_011522504.3:c.245C>T, XM_011522504.2:c.245C>T, XM_011522504.1:c.245C>T, XM_011522503.3:c.245C>T, XM_011522503.2:c.245C>T, XM_011522503.1:c.245C>T, NM_002513.3:c.234C>T, NM_002513.2:c.234C>T, XP_011520806.1:p.Thr82Met, XP_011520805.1:p.Thr82Met

Select item 144644503417.

rs1446445034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1771490 (GRCh38)
16:1821491 (GRCh37)
Canonical SPDI:: NC_000016.10:1771489:C:T
Gene:: NME3 (Varview), MRPS34 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1771490C>T, NC_000016.9:g.1821491C>T, XM_005255332.5:c.45G>A, XM_005255332.4:c.45G>A, XM_005255332.3:c.45G>A, XM_005255332.2:c.45G>A, XM_005255332.1:c.45G>A, XM_011522504.3:c.45G>A, XM_011522504.2:c.45G>A, XM_011522504.1:c.45G>A, XM_011522503.3:c.45G>A, XM_011522503.2:c.45G>A, XM_011522503.1:c.45G>A, NM_002513.3:c.45G>A, NM_002513.2:c.45G>A

Select item 144436454018.

rs1444364540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1771163 (GRCh38)
16:1821164 (GRCh37)
Canonical SPDI:: NC_000016.10:1771162:C:G,NC_000016.10:1771162:C:T
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.00007/2 (TOMMO)
HGVS:: NC_000016.10:g.1771163C>G, NC_000016.10:g.1771163C>T, NC_000016.9:g.1821164C>G, NC_000016.9:g.1821164C>T, XM_005255332.5:c.186G>C, XM_005255332.5:c.186G>A, XM_005255332.4:c.186G>C, XM_005255332.4:c.186G>A, XM_005255332.3:c.186G>C, XM_005255332.3:c.186G>A, XM_005255332.2:c.186G>C, XM_005255332.2:c.186G>A, XM_005255332.1:c.186G>C, XM_005255332.1:c.186G>A, XM_011522504.3:c.197G>C, XM_011522504.3:c.197G>A, XM_011522504.2:c.197G>C, XM_011522504.2:c.197G>A, XM_011522504.1:c.197G>C, XM_011522504.1:c.197G>A, XM_011522503.3:c.197G>C, XM_011522503.3:c.197G>A, XM_011522503.2:c.197G>C, XM_011522503.2:c.197G>A, XM_011522503.1:c.197G>C, XM_011522503.1:c.197G>A, NM_002513.3:c.186G>C, NM_002513.3:c.186G>A, NM_002513.2:c.186G>C, NM_002513.2:c.186G>A, XP_005255389.1:p.Glu62Asp, XP_011520806.1:p.Arg66Thr, XP_011520806.1:p.Arg66Lys, XP_011520805.1:p.Arg66Thr, XP_011520805.1:p.Arg66Lys, NP_002504.2:p.Glu62Asp

Select item 144430952919.

rs1444309529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1770727 (GRCh38)
16:1820728 (GRCh37)
Canonical SPDI:: NC_000016.10:1770726:G:A
Gene:: NME3 (Varview), MAPK8IP3 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1770727G>A, NC_000016.9:g.1820728G>A, XM_005255332.5:c.424C>T, XM_005255332.4:c.424C>T, XM_005255332.3:c.424C>T, XM_005255332.2:c.424C>T, XM_005255332.1:c.424C>T, XM_011522504.3:c.*32C>T, XM_011522504.2:c.*32C>T, XM_011522504.1:c.*32C>T, XM_011522503.3:c.435C>T, XM_011522503.2:c.435C>T, XM_011522503.1:c.435C>T, NM_002513.3:c.432C>T, NM_002513.2:c.432C>T, XP_005255389.1:p.Pro142Ser

Select item 144143673220.

rs1441436732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1770945 (GRCh38)
16:1820946 (GRCh37)
Canonical SPDI:: NC_000016.10:1770944:C:T
Gene:: NME3 (Varview), EME2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1770945C>T, NC_000016.9:g.1820946C>T, XM_005255332.5:c.328G>A, XM_005255332.4:c.328G>A, XM_005255332.3:c.328G>A, XM_005255332.2:c.328G>A, XM_005255332.1:c.328G>A, XM_011522504.3:c.339G>A, XM_011522504.2:c.339G>A, XM_011522504.1:c.339G>A, XM_011522503.3:c.339G>A, XM_011522503.2:c.339G>A, XM_011522503.1:c.339G>A, NM_002513.3:c.328G>A, NM_002513.2:c.328G>A, XP_005255389.1:p.Ala110Thr, NP_002504.2:p.Ala110Thr

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 280

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity