SNP Links for Protein (Select 297206774) - SNP

Links from Protein

Items: 1 to 20 of 99

<< First< Prev

Page of 5

Next >Last >>

Select item 14887997001.

rs1488799700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:140647575 (GRCh38)
5:140027160 (GRCh37)
Canonical SPDI:: NC_000005.10:140647574:C:A,NC_000005.10:140647574:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140647575C>A, NC_000005.10:g.140647575C>T, NC_000005.9:g.140027160C>A, NC_000005.9:g.140027160C>T, NG_021417.1:g.5211G>T, NG_021417.1:g.5211G>A, NM_002488.5:c.9G>T, NM_002488.5:c.9G>A, NM_002488.4:c.9G>T, NM_002488.4:c.9G>A, NR_033697.2:n.56G>T, NR_033697.2:n.56G>A, NR_033697.1:n.211G>T, NR_033697.1:n.211G>A, NM_001185012.2:c.9G>T, NM_001185012.2:c.9G>A, NM_001185012.1:c.9G>T, NM_001185012.1:c.9G>A, XM_047417354.1:c.*758C>A, XM_047417354.1:c.*758C>T

Select item 14821024112.

rs1482102411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140647534 (GRCh38)
5:140027119 (GRCh37)
Canonical SPDI:: NC_000005.10:140647533:C:G,NC_000005.10:140647533:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140647534C>G, NC_000005.10:g.140647534C>T, NC_000005.9:g.140027119C>G, NC_000005.9:g.140027119C>T, NG_021417.1:g.5252G>C, NG_021417.1:g.5252G>A, NM_002488.5:c.50G>C, NM_002488.5:c.50G>A, NM_002488.4:c.50G>C, NM_002488.4:c.50G>A, NR_033697.2:n.97G>C, NR_033697.2:n.97G>A, NR_033697.1:n.252G>C, NR_033697.1:n.252G>A, NM_001185012.2:c.50G>C, NM_001185012.2:c.50G>A, NM_001185012.1:c.50G>C, NM_001185012.1:c.50G>A, XM_047417354.1:c.*717C>G, XM_047417354.1:c.*717C>T, NP_002479.1:p.Arg17Pro, NP_002479.1:p.Arg17His, NP_001171941.1:p.Arg17Pro, NP_001171941.1:p.Arg17His

Select item 14684029193.

rs1468402919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:140647543 (GRCh38)
5:140027128 (GRCh37)
Canonical SPDI:: NC_000005.10:140647542:A:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000495/8 (TOMMO)
HGVS:: NC_000005.10:g.140647543A>T, NC_000005.9:g.140027128A>T, NG_021417.1:g.5243T>A, NM_002488.5:c.41T>A, NM_002488.4:c.41T>A, NR_033697.2:n.88T>A, NR_033697.1:n.243T>A, NM_001185012.2:c.41T>A, NM_001185012.1:c.41T>A, XM_047417354.1:c.*726A>T, NP_002479.1:p.Leu14Gln, NP_001171941.1:p.Leu14Gln

Select item 14401466604.

rs1440146660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140647362 (GRCh38)
5:140026947 (GRCh37)
Canonical SPDI:: NC_000005.10:140647361:C:G,NC_000005.10:140647361:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.140647362C>G, NC_000005.10:g.140647362C>T, NC_000005.9:g.140026947C>G, NC_000005.9:g.140026947C>T, NG_021417.1:g.5424G>C, NG_021417.1:g.5424G>A, NM_002488.5:c.102G>C, NM_002488.5:c.102G>A, NM_002488.4:c.102G>C, NM_002488.4:c.102G>A, NR_033697.2:n.269G>C, NR_033697.2:n.269G>A, NR_033697.1:n.424G>C, NR_033697.1:n.424G>A, NM_001185012.2:c.102G>C, NM_001185012.2:c.102G>A, NM_001185012.1:c.102G>C, NM_001185012.1:c.102G>A, XM_047417354.1:c.*545C>G, XM_047417354.1:c.*545C>T, NP_002479.1:p.Arg34Ser, NP_001171941.1:p.Arg34Ser

Select item 14372774195.

rs1437277419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140647317 (GRCh38)
5:140026902 (GRCh37)
Canonical SPDI:: NC_000005.10:140647316:G:A
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140647317G>A, NC_000005.9:g.140026902G>A, NG_021417.1:g.5469C>T, NM_002488.5:c.147C>T, NM_002488.4:c.147C>T, NR_033697.2:n.314C>T, NR_033697.1:n.469C>T, NM_001185012.2:c.147C>T, NM_001185012.1:c.147C>T, XM_047417354.1:c.*500G>A

Select item 14334979686.

rs1433497968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140647318 (GRCh38)
5:140026903 (GRCh37)
Canonical SPDI:: NC_000005.10:140647317:G:A
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140647318G>A, NC_000005.9:g.140026903G>A, NG_021417.1:g.5468C>T, NM_002488.5:c.146C>T, NM_002488.4:c.146C>T, NR_033697.2:n.313C>T, NR_033697.1:n.468C>T, NM_001185012.2:c.146C>T, NM_001185012.1:c.146C>T, XM_047417354.1:c.*501G>A, NP_002479.1:p.Pro49Leu, NP_001171941.1:p.Pro49Leu

Select item 13991971607.

rs1399197160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140647557 (GRCh38)
5:140027142 (GRCh37)
Canonical SPDI:: NC_000005.10:140647556:T:C
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140647557T>C, NC_000005.9:g.140027142T>C, NG_021417.1:g.5229A>G, NM_002488.5:c.27A>G, NM_002488.4:c.27A>G, NR_033697.2:n.74A>G, NR_033697.1:n.229A>G, NM_001185012.2:c.27A>G, NM_001185012.1:c.27A>G, XM_047417354.1:c.*740T>C

Select item 13940102868.

rs1394010286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:140647506 (GRCh38)
5:140027091 (GRCh37)
Canonical SPDI:: NC_000005.10:140647505:G:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000005.10:g.140647506G>T, NC_000005.9:g.140027091G>T, NG_021417.1:g.5280C>A, NM_002488.5:c.78C>A, NM_002488.4:c.78C>A, NR_033697.2:n.125C>A, NR_033697.1:n.280C>A, NM_001185012.2:c.78C>A, NM_001185012.1:c.78C>A, XM_047417354.1:c.*689G>T

Select item 13781610609.

rs1378161060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140647304 (GRCh38)
5:140026889 (GRCh37)
Canonical SPDI:: NC_000005.10:140647303:G:A
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140647304G>A, NC_000005.9:g.140026889G>A, NG_021417.1:g.5482C>T, NM_002488.5:c.160C>T, NM_002488.4:c.160C>T, NR_033697.2:n.327C>T, NR_033697.1:n.482C>T, NM_001185012.2:c.160C>T, NM_001185012.1:c.160C>T, XM_047417354.1:c.*487G>A

Select item 136098904010.

rs1360989040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140647556 (GRCh38)
5:140027141 (GRCh37)
Canonical SPDI:: NC_000005.10:140647555:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140647556C>T, NC_000005.9:g.140027141C>T, NG_021417.1:g.5230G>A, NM_002488.5:c.28G>A, NM_002488.4:c.28G>A, NR_033697.2:n.75G>A, NR_033697.1:n.230G>A, NM_001185012.2:c.28G>A, NM_001185012.1:c.28G>A, XM_047417354.1:c.*739C>T, NP_002479.1:p.Val10Ile, NP_001171941.1:p.Val10Ile

Select item 135971778311.

rs1359717783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140645721 (GRCh38)
5:140025306 (GRCh37)
Canonical SPDI:: NC_000005.10:140645720:G:A
Gene:: NDUFA2 (Varview), TMCO6 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140645721G>A, NC_000005.9:g.140025306G>A, NG_021417.1:g.7065C>T, NM_001185012.2:c.213C>T, NM_001185012.1:c.213C>T

Select item 131667072312.

rs1316670723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:140645719 (GRCh38)
5:140025304 (GRCh37)
Canonical SPDI:: NC_000005.10:140645718:C:A,NC_000005.10:140645718:C:G
Gene:: NDUFA2 (Varview), TMCO6 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.140645719C>A, NC_000005.10:g.140645719C>G, NC_000005.9:g.140025304C>A, NC_000005.9:g.140025304C>G, NG_021417.1:g.7067G>T, NG_021417.1:g.7067G>C, NM_001185012.2:c.215G>T, NM_001185012.2:c.215G>C, NM_001185012.1:c.215G>T, NM_001185012.1:c.215G>C, NP_001171941.1:p.Arg72Met, NP_001171941.1:p.Arg72Thr

Select item 131484659413.

rs1314846594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:140647484 (GRCh38)
5:140027069 (GRCh37)
Canonical SPDI:: NC_000005.10:140647483:T:G
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140647484T>G, NC_000005.9:g.140027069T>G, NG_021417.1:g.5302A>C, NM_002488.5:c.100A>C, NM_002488.4:c.100A>C, NR_033697.2:n.147A>C, NR_033697.1:n.302A>C, NM_001185012.2:c.100A>C, NM_001185012.1:c.100A>C, XM_047417354.1:c.*667T>G

Select item 131339690514.

rs1313396905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140647525 (GRCh38)
5:140027110 (GRCh37)
Canonical SPDI:: NC_000005.10:140647524:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,missense_variant,downstream_transcript_variant
HGVS:: NC_000005.10:g.140647525C>T, NC_000005.9:g.140027110C>T, NG_021417.1:g.5261G>A, NM_002488.5:c.59G>A, NM_002488.4:c.59G>A, NR_033697.2:n.106G>A, NR_033697.1:n.261G>A, NM_001185012.2:c.59G>A, NM_001185012.1:c.59G>A, XM_047417354.1:c.*708C>T, NP_002479.1:p.Arg20His, NP_001171941.1:p.Arg20His

Select item 129619394015.

rs1296193940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:140647561 (GRCh38)
5:140027146 (GRCh37)
Canonical SPDI:: NC_000005.10:140647560:C:A,NC_000005.10:140647560:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140647561C>A, NC_000005.10:g.140647561C>T, NC_000005.9:g.140027146C>A, NC_000005.9:g.140027146C>T, NG_021417.1:g.5225G>T, NG_021417.1:g.5225G>A, NM_002488.5:c.23G>T, NM_002488.5:c.23G>A, NM_002488.4:c.23G>T, NM_002488.4:c.23G>A, NR_033697.2:n.70G>T, NR_033697.2:n.70G>A, NR_033697.1:n.225G>T, NR_033697.1:n.225G>A, NM_001185012.2:c.23G>T, NM_001185012.2:c.23G>A, NM_001185012.1:c.23G>T, NM_001185012.1:c.23G>A, XM_047417354.1:c.*744C>A, XM_047417354.1:c.*744C>T, NP_002479.1:p.Arg8Leu, NP_002479.1:p.Arg8Gln, NP_001171941.1:p.Arg8Leu, NP_001171941.1:p.Arg8Gln

Select item 128969600316.

rs1289696003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140645725 (GRCh38)
5:140025310 (GRCh37)
Canonical SPDI:: NC_000005.10:140645724:G:A
Gene:: NDUFA2 (Varview), TMCO6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
HGVS:: NC_000005.10:g.140645725G>A, NC_000005.9:g.140025310G>A, NG_021417.1:g.7061C>T, NM_001185012.2:c.209C>T, NM_001185012.1:c.209C>T, NP_001171941.1:p.Ala70Val

Select item 128701418417.

rs1287014184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140647538 (GRCh38)
5:140027123 (GRCh37)
Canonical SPDI:: NC_000005.10:140647537:G:A
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.140647538G>A, NC_000005.9:g.140027123G>A, NG_021417.1:g.5248C>T, NM_002488.5:c.46C>T, NM_002488.4:c.46C>T, NR_033697.2:n.93C>T, NR_033697.1:n.248C>T, NM_001185012.2:c.46C>T, NM_001185012.1:c.46C>T, XM_047417354.1:c.*721G>A

Select item 128524951518.

rs1285249515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140647278 (GRCh38)
5:140026863 (GRCh37)
Canonical SPDI:: NC_000005.10:140647277:C:G,NC_000005.10:140647277:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140647278C>G, NC_000005.10:g.140647278C>T, NC_000005.9:g.140026863C>G, NC_000005.9:g.140026863C>T, NG_021417.1:g.5508G>C, NG_021417.1:g.5508G>A, NM_002488.5:c.186G>C, NM_002488.5:c.186G>A, NM_002488.4:c.186G>C, NM_002488.4:c.186G>A, NR_033697.2:n.353G>C, NR_033697.2:n.353G>A, NR_033697.1:n.508G>C, NR_033697.1:n.508G>A, NM_001185012.2:c.186G>C, NM_001185012.2:c.186G>A, NM_001185012.1:c.186G>C, NM_001185012.1:c.186G>A, XM_047417354.1:c.*461C>G, XM_047417354.1:c.*461C>T, NP_002479.1:p.Gln62His, NP_001171941.1:p.Gln62His

Select item 127992687719.

rs1279926877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:140647508 (GRCh38)
5:140027093 (GRCh37)
Canonical SPDI:: NC_000005.10:140647507:G:C
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140647508G>C, NC_000005.9:g.140027093G>C, NG_021417.1:g.5278C>G, NM_002488.5:c.76C>G, NM_002488.4:c.76C>G, NR_033697.2:n.123C>G, NR_033697.1:n.278C>G, NM_001185012.2:c.76C>G, NM_001185012.1:c.76C>G, XM_047417354.1:c.*691G>C, NP_002479.1:p.Arg26Gly, NP_001171941.1:p.Arg26Gly

Select item 127573666720.

rs1275736667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140647524 (GRCh38)
5:140027109 (GRCh37)
Canonical SPDI:: NC_000005.10:140647523:G:A
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.140647524G>A, NC_000005.9:g.140027109G>A, NG_021417.1:g.5262C>T, NM_002488.5:c.60C>T, NM_002488.4:c.60C>T, NR_033697.2:n.107C>T, NR_033697.1:n.262C>T, NM_001185012.2:c.60C>T, NM_001185012.1:c.60C>T, XM_047417354.1:c.*707G>A

<< First< Prev

Page of 5

Next >Last >>

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 99

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity