SNP Links for Protein (Select 556695383) - SNP

Select item 14893371611.

rs1489337161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:399644 (GRCh38)
16:449644 (GRCh37)
Canonical SPDI:: NC_000016.10:399643:T:A,NC_000016.10:399643:T:C
Gene:: NME4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.399644T>A, NC_000016.10:g.399644T>C, NC_000016.9:g.449644T>A, NC_000016.9:g.449644T>C, NM_005009.3:c.345T>A, NM_005009.3:c.345T>C, NM_005009.2:c.345T>A, NM_005009.2:c.345T>C, NM_001286440.2:c.135T>A, NM_001286440.2:c.135T>C, NM_001286440.1:c.135T>A, NM_001286440.1:c.135T>C, NM_001286436.2:c.135T>A, NM_001286436.2:c.135T>C, NM_001286436.1:c.135T>A, NM_001286436.1:c.135T>C, NM_001286439.2:c.135T>A, NM_001286439.2:c.135T>C, NM_001286439.1:c.135T>A, NM_001286439.1:c.135T>C, NM_001286438.2:c.135T>A, NM_001286438.2:c.135T>C, NM_001286438.1:c.135T>A, NM_001286438.1:c.135T>C, NM_001286435.2:c.345T>A, NM_001286435.2:c.345T>C, NM_001286435.1:c.345T>A, NM_001286435.1:c.345T>C, NM_001286433.2:c.243T>A, NM_001286433.2:c.243T>C, NM_001286433.1:c.243T>A, NM_001286433.1:c.243T>C, NP_005000.1:p.Asn115Lys, NP_001273369.1:p.Asn45Lys, NP_001273365.1:p.Asn45Lys, NP_001273368.1:p.Asn45Lys, NP_001273367.1:p.Asn45Lys, NP_001273364.1:p.Asn115Lys, NP_001273362.1:p.Asn81Lys

Select item 14889451092.

rs1488945109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:399447 (GRCh38)
16:449447 (GRCh37)
Canonical SPDI:: NC_000016.10:399446:C:T
Gene:: NME4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.399447C>T, NC_000016.9:g.449447C>T, NM_005009.3:c.294C>T, NM_005009.2:c.294C>T, NM_001286440.2:c.84C>T, NM_001286440.1:c.84C>T, NM_001286436.2:c.84C>T, NM_001286436.1:c.84C>T, NM_001286439.2:c.84C>T, NM_001286439.1:c.84C>T, NM_001286438.2:c.84C>T, NM_001286438.1:c.84C>T, NM_001286435.2:c.294C>T, NM_001286435.1:c.294C>T

Select item 14672522773.

rs1467252277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:399432 (GRCh38)
16:449432 (GRCh37)
Canonical SPDI:: NC_000016.10:399431:C:T
Gene:: NME4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.399432C>T, NC_000016.9:g.449432C>T, NM_005009.3:c.279C>T, NM_005009.2:c.279C>T, NM_001286440.2:c.69C>T, NM_001286440.1:c.69C>T, NM_001286436.2:c.69C>T, NM_001286436.1:c.69C>T, NM_001286439.2:c.69C>T, NM_001286439.1:c.69C>T, NM_001286438.2:c.69C>T, NM_001286438.1:c.69C>T, NM_001286435.2:c.279C>T, NM_001286435.1:c.279C>T

Select item 14611719574.

rs1461171957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:399389 (GRCh38)
16:449389 (GRCh37)
Canonical SPDI:: NC_000016.10:399388:G:A
Gene:: NME4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.399389G>A, NC_000016.9:g.449389G>A, NM_005009.3:c.236G>A, NM_005009.2:c.236G>A, NM_001286440.2:c.26G>A, NM_001286440.1:c.26G>A, NM_001286436.2:c.26G>A, NM_001286436.1:c.26G>A, NM_001286439.2:c.26G>A, NM_001286439.1:c.26G>A, NM_001286438.2:c.26G>A, NM_001286438.1:c.26G>A, NM_001286435.2:c.236G>A, NM_001286435.1:c.236G>A, NP_005000.1:p.Ser79Asn, NP_001273369.1:p.Ser9Asn, NP_001273365.1:p.Ser9Asn, NP_001273368.1:p.Ser9Asn, NP_001273367.1:p.Ser9Asn, NP_001273364.1:p.Ser79Asn

Select item 14531996175.

rs1453199617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:399661 (GRCh38)
16:449661 (GRCh37)
Canonical SPDI:: NC_000016.10:399660:G:A,NC_000016.10:399660:G:C
Gene:: NME4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.399661G>A, NC_000016.10:g.399661G>C, NC_000016.9:g.449661G>A, NC_000016.9:g.449661G>C, NM_005009.3:c.362G>A, NM_005009.3:c.362G>C, NM_005009.2:c.362G>A, NM_005009.2:c.362G>C, NM_001286440.2:c.152G>A, NM_001286440.2:c.152G>C, NM_001286440.1:c.152G>A, NM_001286440.1:c.152G>C, NM_001286436.2:c.152G>A, NM_001286436.2:c.152G>C, NM_001286436.1:c.152G>A, NM_001286436.1:c.152G>C, NM_001286439.2:c.152G>A, NM_001286439.2:c.152G>C, NM_001286439.1:c.152G>A, NM_001286439.1:c.152G>C, NM_001286438.2:c.152G>A, NM_001286438.2:c.152G>C, NM_001286438.1:c.152G>A, NM_001286438.1:c.152G>C, NM_001286435.2:c.362G>A, NM_001286435.2:c.362G>C, NM_001286435.1:c.362G>A, NM_001286435.1:c.362G>C, NM_001286433.2:c.260G>A, NM_001286433.2:c.260G>C, NM_001286433.1:c.260G>A, NM_001286433.1:c.260G>C, NP_005000.1:p.Arg121Lys, NP_005000.1:p.Arg121Thr, NP_001273369.1:p.Arg51Lys, NP_001273369.1:p.Arg51Thr, NP_001273365.1:p.Arg51Lys, NP_001273365.1:p.Arg51Thr, NP_001273368.1:p.Arg51Lys, NP_001273368.1:p.Arg51Thr, NP_001273367.1:p.Arg51Lys, NP_001273367.1:p.Arg51Thr, NP_001273364.1:p.Arg121Lys, NP_001273364.1:p.Arg121Thr, NP_001273362.1:p.Arg87Lys, NP_001273362.1:p.Arg87Thr

Select item 14521963116.

rs1452196311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:400283 (GRCh38)
16:450283 (GRCh37)
Canonical SPDI:: NC_000016.10:400282:A:G
Gene:: NME4 (Varview), DECR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.400283A>G, NC_000016.9:g.450283A>G, NM_005009.3:c.505A>G, NM_005009.2:c.505A>G, NM_001286440.2:c.295A>G, NM_001286440.1:c.295A>G, NM_001286436.2:c.295A>G, NM_001286436.1:c.295A>G, NM_001286439.2:c.295A>G, NM_001286439.1:c.295A>G, NM_001286438.2:c.295A>G, NM_001286438.1:c.295A>G, NM_001286435.2:c.*93A>G, NM_001286435.1:c.*93A>G, NM_001286433.2:c.403A>G, NM_001286433.1:c.403A>G, NP_005000.1:p.Ser169Gly, NP_001273369.1:p.Ser99Gly, NP_001273365.1:p.Ser99Gly, NP_001273368.1:p.Ser99Gly, NP_001273367.1:p.Ser99Gly, NP_001273362.1:p.Ser135Gly

Select item 14497193197.

rs1449719319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:399637 (GRCh38)
16:449637 (GRCh37)
Canonical SPDI:: NC_000016.10:399636:G:A
Gene:: NME4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.399637G>A, NC_000016.9:g.449637G>A, NM_005009.3:c.338G>A, NM_005009.2:c.338G>A, NM_001286440.2:c.128G>A, NM_001286440.1:c.128G>A, NM_001286436.2:c.128G>A, NM_001286436.1:c.128G>A, NM_001286439.2:c.128G>A, NM_001286439.1:c.128G>A, NM_001286438.2:c.128G>A, NM_001286438.1:c.128G>A, NM_001286435.2:c.338G>A, NM_001286435.1:c.338G>A, NM_001286433.2:c.236G>A, NM_001286433.1:c.236G>A, NP_005000.1:p.Gly113Glu, NP_001273369.1:p.Gly43Glu, NP_001273365.1:p.Gly43Glu, NP_001273368.1:p.Gly43Glu, NP_001273367.1:p.Gly43Glu, NP_001273364.1:p.Gly113Glu, NP_001273362.1:p.Gly79Glu

Select item 14328883288.

rs1432888328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:399722 (GRCh38)
16:449722 (GRCh37)
Canonical SPDI:: NC_000016.10:399721:C:A,NC_000016.10:399721:C:T
Gene:: NME4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.399722C>A, NC_000016.10:g.399722C>T, NC_000016.9:g.449722C>A, NC_000016.9:g.449722C>T, NM_005009.3:c.423C>A, NM_005009.3:c.423C>T, NM_005009.2:c.423C>A, NM_005009.2:c.423C>T, NM_001286440.2:c.213C>A, NM_001286440.2:c.213C>T, NM_001286440.1:c.213C>A, NM_001286440.1:c.213C>T, NM_001286436.2:c.213C>A, NM_001286436.2:c.213C>T, NM_001286436.1:c.213C>A, NM_001286436.1:c.213C>T, NM_001286439.2:c.213C>A, NM_001286439.2:c.213C>T, NM_001286439.1:c.213C>A, NM_001286439.1:c.213C>T, NM_001286438.2:c.213C>A, NM_001286438.2:c.213C>T, NM_001286438.1:c.213C>A, NM_001286438.1:c.213C>T, NM_001286435.2:c.423C>A, NM_001286435.2:c.423C>T, NM_001286435.1:c.423C>A, NM_001286435.1:c.423C>T, NM_001286433.2:c.321C>A, NM_001286433.2:c.321C>T, NM_001286433.1:c.321C>A, NM_001286433.1:c.321C>T, NP_005000.1:p.Phe141Leu, NP_001273369.1:p.Phe71Leu, NP_001273365.1:p.Phe71Leu, NP_001273368.1:p.Phe71Leu, NP_001273367.1:p.Phe71Leu, NP_001273364.1:p.Phe141Leu, NP_001273362.1:p.Phe107Leu

Select item 14266731189.

rs1426673118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:400276 (GRCh38)
16:450276 (GRCh37)
Canonical SPDI:: NC_000016.10:400275:G:T
Gene:: NME4 (Varview), DECR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.400276G>T, NC_000016.9:g.450276G>T, NM_005009.3:c.498G>T, NM_005009.2:c.498G>T, NM_001286440.2:c.288G>T, NM_001286440.1:c.288G>T, NM_001286436.2:c.288G>T, NM_001286436.1:c.288G>T, NM_001286439.2:c.288G>T, NM_001286439.1:c.288G>T, NM_001286438.2:c.288G>T, NM_001286438.1:c.288G>T, NM_001286435.2:c.*86G>T, NM_001286435.1:c.*86G>T, NM_001286433.2:c.396G>T, NM_001286433.1:c.396G>T, NP_005000.1:p.Trp166Cys, NP_001273369.1:p.Trp96Cys, NP_001273365.1:p.Trp96Cys, NP_001273368.1:p.Trp96Cys, NP_001273367.1:p.Trp96Cys, NP_001273362.1:p.Trp132Cys

Select item 140686781210.

rs1406867812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:399696 (GRCh38)
16:449696 (GRCh37)
Canonical SPDI:: NC_000016.10:399695:G:A
Gene:: NME4 (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)
HGVS:: NC_000016.10:g.399696G>A, NC_000016.9:g.449696G>A, NM_005009.3:c.397G>A, NM_005009.2:c.397G>A, NM_001286440.2:c.187G>A, NM_001286440.1:c.187G>A, NM_001286436.2:c.187G>A, NM_001286436.1:c.187G>A, NM_001286439.2:c.187G>A, NM_001286439.1:c.187G>A, NM_001286438.2:c.187G>A, NM_001286438.1:c.187G>A, NM_001286435.2:c.397G>A, NM_001286435.1:c.397G>A, NM_001286433.2:c.295G>A, NM_001286433.1:c.295G>A, NP_005000.1:p.Ala133Thr, NP_001273369.1:p.Ala63Thr, NP_001273365.1:p.Ala63Thr, NP_001273368.1:p.Ala63Thr, NP_001273367.1:p.Ala63Thr, NP_001273364.1:p.Ala133Thr, NP_001273362.1:p.Ala99Thr

Select item 139840130111.

rs1398401301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:399401 (GRCh38)
16:449401 (GRCh37)
Canonical SPDI:: NC_000016.10:399400:A:C
Gene:: NME4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.399401A>C, NC_000016.9:g.449401A>C, NM_005009.3:c.248A>C, NM_005009.2:c.248A>C, NM_001286440.2:c.38A>C, NM_001286440.1:c.38A>C, NM_001286436.2:c.38A>C, NM_001286436.1:c.38A>C, NM_001286439.2:c.38A>C, NM_001286439.1:c.38A>C, NM_001286438.2:c.38A>C, NM_001286438.1:c.38A>C, NM_001286435.2:c.248A>C, NM_001286435.1:c.248A>C, NP_005000.1:p.Glu83Ala, NP_001273369.1:p.Glu13Ala, NP_001273365.1:p.Glu13Ala, NP_001273368.1:p.Glu13Ala, NP_001273367.1:p.Glu13Ala, NP_001273364.1:p.Glu83Ala

Select item 138719661212.

rs1387196612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:399440 (GRCh38)
16:449440 (GRCh37)
Canonical SPDI:: NC_000016.10:399439:C:T
Gene:: NME4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.399440C>T, NC_000016.9:g.449440C>T, NM_005009.3:c.287C>T, NM_005009.2:c.287C>T, NM_001286440.2:c.77C>T, NM_001286440.1:c.77C>T, NM_001286436.2:c.77C>T, NM_001286436.1:c.77C>T, NM_001286439.2:c.77C>T, NM_001286439.1:c.77C>T, NM_001286438.2:c.77C>T, NM_001286438.1:c.77C>T, NM_001286435.2:c.287C>T, NM_001286435.1:c.287C>T, NP_005000.1:p.Ala96Val, NP_001273369.1:p.Ala26Val, NP_001273365.1:p.Ala26Val, NP_001273368.1:p.Ala26Val, NP_001273367.1:p.Ala26Val, NP_001273364.1:p.Ala96Val

Select item 138679787813.

rs1386797878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:399402 (GRCh38)
16:449402 (GRCh37)
Canonical SPDI:: NC_000016.10:399401:G:C
Gene:: NME4 (Varview)
Functional Consequence:: intron_variant,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_000016.10:g.399402G>C, NC_000016.9:g.449402G>C, NM_005009.3:c.249G>C, NM_005009.2:c.249G>C, NM_001286440.2:c.39G>C, NM_001286440.1:c.39G>C, NM_001286436.2:c.39G>C, NM_001286436.1:c.39G>C, NM_001286439.2:c.39G>C, NM_001286439.1:c.39G>C, NM_001286438.2:c.39G>C, NM_001286438.1:c.39G>C, NM_001286435.2:c.249G>C, NM_001286435.1:c.249G>C, NP_005000.1:p.Glu83Asp, NP_001273369.1:p.Glu13Asp, NP_001273365.1:p.Glu13Asp, NP_001273368.1:p.Glu13Asp, NP_001273367.1:p.Glu13Asp, NP_001273364.1:p.Glu83Asp

Select item 138653739214.

rs1386537392 has merged into rs1260410957 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAGCTGG>-,TGAGCTGGTGAGCTGG [Show Flanks]
Chromosome:: 16:400296 (GRCh38)
16:450296 (GRCh37)
Canonical SPDI:: NC_000016.10:400286:GTGAGCTGGTGAGCTGG:GTGAGCTGG,NC_000016.10:400286:GTGAGCTGGTGAGCTGG:GTGAGCTGGTGAGCTGGTGAGCTGG
Gene:: NME4 (Varview), DECR2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,frameshift_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGAGCTGGTGAGCTGGTGAGCTGG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.400288TGAGCTGG[1], NC_000016.10:g.400288TGAGCTGG[3], NC_000016.9:g.450288TGAGCTGG[1], NC_000016.9:g.450288TGAGCTGG[3], NM_005009.3:c.518_525del, NM_005009.3:c.518_525dup, NM_005009.2:c.518_525del, NM_005009.2:c.518_525dup, NM_001286440.2:c.308_315del, NM_001286440.2:c.308_315dup, NM_001286440.1:c.308_315del, NM_001286440.1:c.308_315dup, NM_001286436.2:c.308_315del, NM_001286436.2:c.308_315dup, NM_001286436.1:c.308_315del, NM_001286436.1:c.308_315dup, NM_001286439.2:c.308_315del, NM_001286439.2:c.308_315dup, NM_001286439.1:c.308_315del, NM_001286439.1:c.308_315dup, NM_001286438.2:c.308_315del, NM_001286438.2:c.308_315dup, NM_001286438.1:c.308_315del, NM_001286438.1:c.308_315dup, NM_001286435.2:c.*98TGAGCTGG[1], NM_001286435.2:c.*98TGAGCTGG[3], NM_001286435.1:c.*98TGAGCTGG[1], NM_001286435.1:c.*98TGAGCTGG[3], NM_001286433.2:c.416_423del, NM_001286433.2:c.416_423dup, NM_001286433.1:c.416_423del, NM_001286433.1:c.416_423dup, NP_005000.1:p.Val173fs, NP_005000.1:p.Ala176Ter, NP_001273369.1:p.Val103fs, NP_001273369.1:p.Ala106Ter, NP_001273365.1:p.Val103fs, NP_001273365.1:p.Ala106Ter, NP_001273368.1:p.Val103fs, NP_001273368.1:p.Ala106Ter, NP_001273367.1:p.Val103fs, NP_001273367.1:p.Ala106Ter, NP_001273362.1:p.Val139fs, NP_001273362.1:p.Ala142Ter

Select item 136786168715.

rs1367861687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:400339 (GRCh38)
16:450339 (GRCh37)
Canonical SPDI:: NC_000016.10:400338:C:G
Gene:: NME4 (Varview), DECR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.400339C>G, NC_000016.9:g.450339C>G, NM_005009.3:c.561C>G, NM_005009.2:c.561C>G, NM_001286440.2:c.351C>G, NM_001286440.1:c.351C>G, NM_001286436.2:c.351C>G, NM_001286436.1:c.351C>G, NM_001286439.2:c.351C>G, NM_001286439.1:c.351C>G, NM_001286438.2:c.351C>G, NM_001286438.1:c.351C>G, NM_001286435.2:c.*149C>G, NM_001286435.1:c.*149C>G, NM_001286433.2:c.459C>G, NM_001286433.1:c.459C>G

Select item 136484633116.

rs1364846331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:400333 (GRCh38)
16:450333 (GRCh37)
Canonical SPDI:: NC_000016.10:400332:C:A
Gene:: NME4 (Varview), DECR2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000057/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.400333C>A, NC_000016.9:g.450333C>A, NM_005009.3:c.555C>A, NM_005009.2:c.555C>A, NM_001286440.2:c.345C>A, NM_001286440.1:c.345C>A, NM_001286436.2:c.345C>A, NM_001286436.1:c.345C>A, NM_001286439.2:c.345C>A, NM_001286439.1:c.345C>A, NM_001286438.2:c.345C>A, NM_001286438.1:c.345C>A, NM_001286435.2:c.*143C>A, NM_001286435.1:c.*143C>A, NM_001286433.2:c.453C>A, NM_001286433.1:c.453C>A, NP_005000.1:p.His185Gln, NP_001273369.1:p.His115Gln, NP_001273365.1:p.His115Gln, NP_001273368.1:p.His115Gln, NP_001273367.1:p.His115Gln, NP_001273362.1:p.His151Gln

Select item 135815608217.

rs1358156082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:399388 (GRCh38)
16:449388 (GRCh37)
Canonical SPDI:: NC_000016.10:399387:A:T
Gene:: NME4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000016.10:g.399388A>T, NC_000016.9:g.449388A>T, NM_005009.3:c.235A>T, NM_005009.2:c.235A>T, NM_001286440.2:c.25A>T, NM_001286440.1:c.25A>T, NM_001286436.2:c.25A>T, NM_001286436.1:c.25A>T, NM_001286439.2:c.25A>T, NM_001286439.1:c.25A>T, NM_001286438.2:c.25A>T, NM_001286438.1:c.25A>T, NM_001286435.2:c.235A>T, NM_001286435.1:c.235A>T, NP_005000.1:p.Ser79Cys, NP_001273369.1:p.Ser9Cys, NP_001273365.1:p.Ser9Cys, NP_001273368.1:p.Ser9Cys, NP_001273367.1:p.Ser9Cys, NP_001273364.1:p.Ser79Cys

Select item 135041883918.

rs1350418839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:399714 (GRCh38)
16:449714 (GRCh37)
Canonical SPDI:: NC_000016.10:399713:G:A,NC_000016.10:399713:G:C
Gene:: NME4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.399714G>A, NC_000016.10:g.399714G>C, NC_000016.9:g.449714G>A, NC_000016.9:g.449714G>C, NM_005009.3:c.415G>A, NM_005009.3:c.415G>C, NM_005009.2:c.415G>A, NM_005009.2:c.415G>C, NM_001286440.2:c.205G>A, NM_001286440.2:c.205G>C, NM_001286440.1:c.205G>A, NM_001286440.1:c.205G>C, NM_001286436.2:c.205G>A, NM_001286436.2:c.205G>C, NM_001286436.1:c.205G>A, NM_001286436.1:c.205G>C, NM_001286439.2:c.205G>A, NM_001286439.2:c.205G>C, NM_001286439.1:c.205G>A, NM_001286439.1:c.205G>C, NM_001286438.2:c.205G>A, NM_001286438.2:c.205G>C, NM_001286438.1:c.205G>A, NM_001286438.1:c.205G>C, NM_001286435.2:c.415G>A, NM_001286435.2:c.415G>C, NM_001286435.1:c.415G>A, NM_001286435.1:c.415G>C, NM_001286433.2:c.313G>A, NM_001286433.2:c.313G>C, NM_001286433.1:c.313G>A, NM_001286433.1:c.313G>C, NP_005000.1:p.Gly139Ser, NP_005000.1:p.Gly139Arg, NP_001273369.1:p.Gly69Ser, NP_001273369.1:p.Gly69Arg, NP_001273365.1:p.Gly69Ser, NP_001273365.1:p.Gly69Arg, NP_001273368.1:p.Gly69Ser, NP_001273368.1:p.Gly69Arg, NP_001273367.1:p.Gly69Ser, NP_001273367.1:p.Gly69Arg, NP_001273364.1:p.Gly139Ser, NP_001273364.1:p.Gly139Arg, NP_001273362.1:p.Gly105Ser, NP_001273362.1:p.Gly105Arg

Select item 134761513719.

rs1347615137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:400289 (GRCh38)
16:450289 (GRCh37)
Canonical SPDI:: NC_000016.10:400288:G:A
Gene:: NME4 (Varview), DECR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.400289G>A, NC_000016.9:g.450289G>A, NM_005009.3:c.511G>A, NM_005009.2:c.511G>A, NM_001286440.2:c.301G>A, NM_001286440.1:c.301G>A, NM_001286436.2:c.301G>A, NM_001286436.1:c.301G>A, NM_001286439.2:c.301G>A, NM_001286439.1:c.301G>A, NM_001286438.2:c.301G>A, NM_001286438.1:c.301G>A, NM_001286435.2:c.*99G>A, NM_001286435.1:c.*99G>A, NM_001286433.2:c.409G>A, NM_001286433.1:c.409G>A, NP_005000.1:p.Glu171Lys, NP_001273369.1:p.Glu101Lys, NP_001273365.1:p.Glu101Lys, NP_001273368.1:p.Glu101Lys, NP_001273367.1:p.Glu101Lys, NP_001273362.1:p.Glu137Lys

Select item 133980973020.

rs1339809730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:399635 (GRCh38)
16:449635 (GRCh37)
Canonical SPDI:: NC_000016.10:399634:A:C
Gene:: NME4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.399635A>C, NC_000016.9:g.449635A>C, NM_005009.3:c.336A>C, NM_005009.2:c.336A>C, NM_001286440.2:c.126A>C, NM_001286440.1:c.126A>C, NM_001286436.2:c.126A>C, NM_001286436.1:c.126A>C, NM_001286439.2:c.126A>C, NM_001286439.1:c.126A>C, NM_001286438.2:c.126A>C, NM_001286438.1:c.126A>C, NM_001286435.2:c.336A>C, NM_001286435.1:c.336A>C, NM_001286433.2:c.234A>C, NM_001286433.1:c.234A>C, NP_005000.1:p.Glu112Asp, NP_001273369.1:p.Glu42Asp, NP_001273365.1:p.Glu42Asp, NP_001273368.1:p.Glu42Asp, NP_001273367.1:p.Glu42Asp, NP_001273364.1:p.Glu112Asp, NP_001273362.1:p.Glu78Asp

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