SNP Links for Protein (Select 83376130) - SNP

Links from Protein

Items: 1 to 20 of 215

<< First< Prev

Page of 11

Next >Last >>

Select item 14844929991.

rs1484492999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:206161427 (GRCh38)
2:207026151 (GRCh37)
Canonical SPDI:: NC_000002.12:206161426:T:G
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_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_000002.12:g.206161427T>G, NC_000002.11:g.207026151T>G, NG_009248.1:g.3037A>C, NW_015495299.1:g.270445T>G, NM_021121.4:c.285T>G, NM_021121.3:c.285T>G, NM_001959.4:c.285T>G, NM_001959.3:c.285T>G, NM_001037663.2:c.285T>G, NM_001037663.1:c.285T>G, NP_066944.1:p.Ser95Arg, NP_001950.1:p.Ser95Arg, NP_001032752.1:p.Ser95Arg

Select item 14816077292.

rs1481607729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:206160048 (GRCh38)
2:207024772 (GRCh37)
Canonical SPDI:: NC_000002.12:206160047:C:A
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.206160048C>A, NC_000002.11:g.207024772C>A, NG_009248.1:g.4416G>T, NW_015495299.1:g.269066C>A, NM_021121.4:c.69C>A, NM_021121.3:c.69C>A, NM_001959.4:c.69C>A, NM_001959.3:c.69C>A, NM_001037663.2:c.69C>A, NM_001037663.1:c.69C>A, NP_066944.1:p.Ser23Arg, NP_001950.1:p.Ser23Arg, NP_001032752.1:p.Ser23Arg

Select item 14793822703.

rs1479382270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:206160706 (GRCh38)
2:207025430 (GRCh37)
Canonical SPDI:: NC_000002.12:206160705:G:C
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206160706G>C, NC_000002.11:g.207025430G>C, NG_009248.1:g.3758C>G, NW_015495299.1:g.269724G>C, NM_021121.4:c.199G>C, NM_021121.3:c.199G>C, NM_001959.4:c.199G>C, NM_001959.3:c.199G>C, NM_001037663.2:c.199G>C, NM_001037663.1:c.199G>C, NP_066944.1:p.Ala67Pro, NP_001950.1:p.Ala67Pro, NP_001032752.1:p.Ala67Pro

Select item 14731366664.

rs1473136666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:206162540 (GRCh38)
2:207027264 (GRCh37)
Canonical SPDI:: NC_000002.12:206162539:A:G
Gene:: EEF1B2 (Varview), SNORA41 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206162540A>G, NC_000002.11:g.207027264A>G, NG_009248.1:g.1924T>C, NW_015495299.1:g.271558A>G, NM_021121.4:c.449A>G, NM_021121.3:c.449A>G, NM_001959.4:c.449A>G, NM_001959.3:c.449A>G, NM_001037663.2:c.449A>G, NM_001037663.1:c.449A>G, NP_066944.1:p.Asp150Gly, NP_001950.1:p.Asp150Gly, NP_001032752.1:p.Asp150Gly

Select item 14711739695.

rs1471173969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206160004 (GRCh38)
2:207024728 (GRCh37)
Canonical SPDI:: NC_000002.12:206160003:C:T
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206160004C>T, NC_000002.11:g.207024728C>T, NG_009248.1:g.4460G>A, NW_015495299.1:g.269022C>T, NM_021121.4:c.25C>T, NM_021121.3:c.25C>T, NM_001959.4:c.25C>T, NM_001959.3:c.25C>T, NM_001037663.2:c.25C>T, NM_001037663.1:c.25C>T, NP_066944.1:p.Pro9Ser, NP_001950.1:p.Pro9Ser, NP_001032752.1:p.Pro9Ser

Select item 14708314616.

rs1470831461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206159996 (GRCh38)
2:207024720 (GRCh37)
Canonical SPDI:: NC_000002.12:206159995:T:C
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.206159996T>C, NC_000002.11:g.207024720T>C, NG_009248.1:g.4468A>G, NW_015495299.1:g.269014T>C, NM_021121.4:c.17T>C, NM_021121.3:c.17T>C, NM_001959.4:c.17T>C, NM_001959.3:c.17T>C, NM_001037663.2:c.17T>C, NM_001037663.1:c.17T>C, NP_066944.1:p.Leu6Pro, NP_001950.1:p.Leu6Pro, NP_001032752.1:p.Leu6Pro

Select item 14650224137.

rs1465022413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206162760 (GRCh38)
2:207027484 (GRCh37)
Canonical SPDI:: NC_000002.12:206162759:G:A
Gene:: EEF1B2 (Varview), SNORA41 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206162760G>A, NC_000002.11:g.207027484G>A, NG_009248.1:g.1704C>T, NW_015495299.1:g.271778G>A, NM_021121.4:c.555G>A, NM_021121.3:c.555G>A, NM_001959.4:c.555G>A, NM_001959.3:c.555G>A, NM_001037663.2:c.555G>A, NM_001037663.1:c.555G>A

Select item 14488923328.

rs1448892332 [Homo sapiens]

Variant type:: DEL
Alleles:: GGGAAGAACGTCTTGCACAATATG>- [Show Flanks]
Chromosome:: 2:206162063 (GRCh38)
2:207026787 (GRCh37)
Canonical SPDI:: NC_000002.12:206162062:GGGAAGAACGTCTTGCACAATATG:
Gene:: EEF1B2 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,inframe_indel,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.206162063_206162086del, NC_000002.11:g.207026787_207026810del, NG_009248.1:g.2378_2401del, NW_015495299.1:g.271081_271104del, NM_021121.4:c.356_379del, NM_021121.3:c.356_379del, NM_001959.4:c.356_379del, NM_001959.3:c.356_379del, NM_001037663.2:c.356_379del, NM_001037663.1:c.356_379del, NP_066944.1:p.Arg119_Glu127delinsLys, NP_001950.1:p.Arg119_Glu127delinsLys, NP_001032752.1:p.Arg119_Glu127delinsLys

Select item 14378294629.

rs1437829462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206162505 (GRCh38)
2:207027229 (GRCh37)
Canonical SPDI:: NC_000002.12:206162504:C:T
Gene:: EEF1B2 (Varview), SNORA41 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.206162505C>T, NC_000002.11:g.207027229C>T, NG_009248.1:g.1959G>A, NW_015495299.1:g.271523C>T, NM_021121.4:c.414C>T, NM_021121.3:c.414C>T, NM_001959.4:c.414C>T, NM_001959.3:c.414C>T, NM_001037663.2:c.414C>T, NM_001037663.1:c.414C>T

Select item 143419198910.

rs1434191989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206160684 (GRCh38)
2:207025408 (GRCh37)
Canonical SPDI:: NC_000002.12:206160683:C:T
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_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_000002.12:g.206160684C>T, NC_000002.11:g.207025408C>T, NG_009248.1:g.3780G>A, NW_015495299.1:g.269702C>T, NM_021121.4:c.177C>T, NM_021121.3:c.177C>T, NM_001959.4:c.177C>T, NM_001959.3:c.177C>T, NM_001037663.2:c.177C>T, NM_001037663.1:c.177C>T

Select item 143085906611.

rs1430859066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206160626 (GRCh38)
2:207025350 (GRCh37)
Canonical SPDI:: NC_000002.12:206160625:C:T
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206160626C>T, NC_000002.11:g.207025350C>T, NG_009248.1:g.3838G>A, NW_015495299.1:g.269644C>T, NM_021121.4:c.119C>T, NM_021121.3:c.119C>T, NM_001959.4:c.119C>T, NM_001959.3:c.119C>T, NM_001037663.2:c.119C>T, NM_001037663.1:c.119C>T, NP_066944.1:p.Ala40Val, NP_001950.1:p.Ala40Val, NP_001032752.1:p.Ala40Val

Select item 142271149312.

rs1422711493 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:206162060 (GRCh38)
2:207026784 (GRCh37)
Canonical SPDI:: NC_000002.12:206162059:T:
Gene:: EEF1B2 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,coding_sequence_variant,frameshift_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.206162060del, NC_000002.11:g.207026784del, NG_009248.1:g.2404del, NW_015495299.1:g.271078del, NM_021121.4:c.353del, NM_021121.3:c.353del, NM_001959.4:c.353del, NM_001959.3:c.353del, NM_001037663.2:c.353del, NM_001037663.1:c.353del, NP_066944.1:p.Leu118fs, NP_001950.1:p.Leu118fs, NP_001032752.1:p.Leu118fs

Select item 141372101413.

rs1413721014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206162804 (GRCh38)
2:207027528 (GRCh37)
Canonical SPDI:: NC_000002.12:206162803:C:T
Gene:: EEF1B2 (Varview), SNORA41 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.206162804C>T, NC_000002.11:g.207027528C>T, NG_009248.1:g.1660G>A, NW_015495299.1:g.271822C>T, NM_021121.4:c.599C>T, NM_021121.3:c.599C>T, NM_001959.4:c.599C>T, NM_001959.3:c.599C>T, NM_001037663.2:c.599C>T, NM_001037663.1:c.599C>T, NP_066944.1:p.Thr200Ile, NP_001950.1:p.Thr200Ile, NP_001032752.1:p.Thr200Ile

Select item 141204953314.

rs1412049533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:206162073 (GRCh38)
2:207026797 (GRCh37)
Canonical SPDI:: NC_000002.12:206162072:T:G
Gene:: EEF1B2 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206162073T>G, NC_000002.11:g.207026797T>G, NG_009248.1:g.2391A>C, NW_015495299.1:g.271091T>G, NM_021121.4:c.366T>G, NM_021121.3:c.366T>G, NM_001959.4:c.366T>G, NM_001959.3:c.366T>G, NM_001037663.2:c.366T>G, NM_001037663.1:c.366T>G

Select item 140715113715.

rs1407151137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206160627 (GRCh38)
2:207025351 (GRCh37)
Canonical SPDI:: NC_000002.12:206160626:C:T
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206160627C>T, NC_000002.11:g.207025351C>T, NG_009248.1:g.3837G>A, NW_015495299.1:g.269645C>T, NM_021121.4:c.120C>T, NM_021121.3:c.120C>T, NM_001959.4:c.120C>T, NM_001959.3:c.120C>T, NM_001037663.2:c.120C>T, NM_001037663.1:c.120C>T

Select item 139780414716.

rs1397804147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:206162045 (GRCh38)
2:207026769 (GRCh37)
Canonical SPDI:: NC_000002.12:206162044:A:G
Gene:: EEF1B2 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_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_000002.12:g.206162045A>G, NC_000002.11:g.207026769A>G, NG_009248.1:g.2419T>C, NW_015495299.1:g.271063A>G, NM_021121.4:c.338A>G, NM_021121.3:c.338A>G, NM_001959.4:c.338A>G, NM_001959.3:c.338A>G, NM_001037663.2:c.338A>G, NM_001037663.1:c.338A>G, NP_066944.1:p.Glu113Gly, NP_001950.1:p.Glu113Gly, NP_001032752.1:p.Glu113Gly

Select item 139590466017.

rs1395904660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206162844 (GRCh38)
2:207027568 (GRCh37)
Canonical SPDI:: NC_000002.12:206162843:T:C
Gene:: EEF1B2 (Varview), SNORA41 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.206162844T>C, NC_000002.11:g.207027568T>C, NG_009248.1:g.1620A>G, NW_015495299.1:g.271862T>C, NM_021121.4:c.639T>C, NM_021121.3:c.639T>C, NM_001959.4:c.639T>C, NM_001959.3:c.639T>C, NM_001037663.2:c.639T>C, NM_001037663.1:c.639T>C

Select item 138594365018.

rs1385943650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:206160589 (GRCh38)
2:207025313 (GRCh37)
Canonical SPDI:: NC_000002.12:206160588:T:G
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.00655/12 (Korea1K)
HGVS:: NC_000002.12:g.206160589T>G, NC_000002.11:g.207025313T>G, NG_009248.1:g.3875A>C, NW_015495299.1:g.269607T>G, NM_021121.4:c.82T>G, NM_021121.3:c.82T>G, NM_001959.4:c.82T>G, NM_001959.3:c.82T>G, NM_001037663.2:c.82T>G, NM_001037663.1:c.82T>G, NP_066944.1:p.Tyr28Asp, NP_001950.1:p.Tyr28Asp, NP_001032752.1:p.Tyr28Asp

Select item 138501690319.

rs1385016903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206160596 (GRCh38)
2:207025320 (GRCh37)
Canonical SPDI:: NC_000002.12:206160595:C:T
Gene:: EEF1B2 (Varview), NDUFS1 (Varview), SNORD51 (Varview), SNORA41 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.206160596C>T, NC_000002.11:g.207025320C>T, NG_009248.1:g.3868G>A, NW_015495299.1:g.269614C>T, NM_021121.4:c.89C>T, NM_021121.3:c.89C>T, NM_001959.4:c.89C>T, NM_001959.3:c.89C>T, NM_001037663.2:c.89C>T, NM_001037663.1:c.89C>T, NP_066944.1:p.Pro30Leu, NP_001950.1:p.Pro30Leu, NP_001032752.1:p.Pro30Leu

Select item 137676462420.

rs1376764624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:206162550 (GRCh38)
2:207027274 (GRCh37)
Canonical SPDI:: NC_000002.12:206162549:A:G
Gene:: EEF1B2 (Varview), SNORA41 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206162550A>G, NC_000002.11:g.207027274A>G, NG_009248.1:g.1914T>C, NW_015495299.1:g.271568A>G, NM_021121.4:c.459A>G, NM_021121.3:c.459A>G, NM_001959.4:c.459A>G, NM_001959.3:c.459A>G, NM_001037663.2:c.459A>G, NM_001037663.1:c.459A>G

<< First< Prev

Page of 11

Next >Last >>

dbSNP

Result Filters

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 215

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity