SNP Links for Protein (Select 21735485) - SNP

Links from Protein

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Select item 14834274431.

rs1483427443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:18026381 (GRCh38)
17:17929695 (GRCh37)
Canonical SPDI:: NC_000017.11:18026380:G:C
Gene:: ATPAF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18026381G>C, NC_000017.10:g.17929695G>C, NG_012824.1:g.17786C>G, NM_145691.4:c.360C>G, NM_145691.3:c.360C>G, XM_005256848.5:c.360C>G, XM_005256848.4:c.360C>G, XM_005256848.3:c.360C>G, XM_005256848.2:c.360C>G, XM_005256848.1:c.360C>G, XM_011524065.2:c.360C>G, XM_011524065.1:c.360C>G, XM_017025302.2:c.60C>G, XM_017025302.1:c.60C>G, XM_017025303.1:c.60C>G, XR_007065531.1:n.515C>G

Select item 14816921402.

rs1481692140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18021134 (GRCh38)
17:17924448 (GRCh37)
Canonical SPDI:: NC_000017.11:18021133:C:T
Gene:: ATPAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18021134C>T, NC_000017.10:g.17924448C>T, NG_012824.1:g.23033G>A, NM_145691.4:c.721G>A, NM_145691.3:c.721G>A, XM_005256848.5:c.721G>A, XM_005256848.4:c.721G>A, XM_005256848.3:c.721G>A, XM_005256848.2:c.721G>A, XM_005256848.1:c.721G>A, XM_011524065.2:c.721G>A, XM_011524065.1:c.721G>A, XM_017025302.2:c.421G>A, XM_017025302.1:c.421G>A, XM_017025303.1:c.421G>A, NP_663729.1:p.Glu241Lys, XP_005256905.1:p.Glu241Lys, XP_011522367.1:p.Glu241Lys, XP_016880791.1:p.Glu141Lys, XP_016880792.1:p.Glu141Lys

Select item 14805959233.

rs1480595923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18018591 (GRCh38)
17:17921905 (GRCh37)
Canonical SPDI:: NC_000017.11:18018590:G:A
Gene:: ATPAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.18018591G>A, NC_000017.10:g.17921905G>A, NG_012824.1:g.25576C>T, NM_145691.4:c.828C>T, NM_145691.3:c.828C>T, XM_017025302.2:c.528C>T, XM_017025302.1:c.528C>T

Select item 14719954874.

rs1471995487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18038980 (GRCh38)
17:17942294 (GRCh37)
Canonical SPDI:: NC_000017.11:18038979:C:T
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18038980C>T, NC_000017.10:g.17942294C>T, NG_012824.1:g.5187G>A, NM_145691.4:c.34G>A, NM_145691.3:c.34G>A, XM_005256848.5:c.34G>A, XM_005256848.4:c.34G>A, XM_005256848.3:c.34G>A, XM_005256848.2:c.34G>A, XM_005256848.1:c.34G>A, XM_011524065.2:c.34G>A, XM_011524065.1:c.34G>A, XM_017025302.2:c.-121G>A, XM_017025302.1:c.-121G>A, XM_017025303.1:c.-121G>A, XR_007065531.1:n.189G>A, NP_663729.1:p.Gly12Arg, XP_005256905.1:p.Gly12Arg, XP_011522367.1:p.Gly12Arg

Select item 14685023405.

rs1468502340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18038989 (GRCh38)
17:17942303 (GRCh37)
Canonical SPDI:: NC_000017.11:18038988:G:A
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18038989G>A, NC_000017.10:g.17942303G>A, NG_012824.1:g.5178C>T, NM_145691.4:c.25C>T, NM_145691.3:c.25C>T, XM_005256848.5:c.25C>T, XM_005256848.4:c.25C>T, XM_005256848.3:c.25C>T, XM_005256848.2:c.25C>T, XM_005256848.1:c.25C>T, XM_011524065.2:c.25C>T, XM_011524065.1:c.25C>T, XM_017025302.2:c.-130C>T, XM_017025302.1:c.-130C>T, XM_017025303.1:c.-130C>T, XR_007065531.1:n.180C>T, NP_663729.1:p.Arg9Trp, XP_005256905.1:p.Arg9Trp, XP_011522367.1:p.Arg9Trp

Select item 14659529546.

rs1465952954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:18038916 (GRCh38)
17:17942230 (GRCh37)
Canonical SPDI:: NC_000017.11:18038915:A:T
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18038916A>T, NC_000017.10:g.17942230A>T, NG_012824.1:g.5251T>A, NM_145691.4:c.98T>A, NM_145691.3:c.98T>A, XM_005256848.5:c.98T>A, XM_005256848.4:c.98T>A, XM_005256848.3:c.98T>A, XM_005256848.2:c.98T>A, XM_005256848.1:c.98T>A, XM_011524065.2:c.98T>A, XM_011524065.1:c.98T>A, XM_017025302.2:c.-57T>A, XM_017025302.1:c.-57T>A, XM_017025303.1:c.-57T>A, XR_007065531.1:n.253T>A, NP_663729.1:p.Ile33Asn, XP_005256905.1:p.Ile33Asn, XP_011522367.1:p.Ile33Asn

Select item 14572215847.

rs1457221584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:18038926 (GRCh38)
17:17942240 (GRCh37)
Canonical SPDI:: NC_000017.11:18038925:C:A
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.18038926C>A, NC_000017.10:g.17942240C>A, NG_012824.1:g.5241G>T, NM_145691.4:c.88G>T, NM_145691.3:c.88G>T, XM_005256848.5:c.88G>T, XM_005256848.4:c.88G>T, XM_005256848.3:c.88G>T, XM_005256848.2:c.88G>T, XM_005256848.1:c.88G>T, XM_011524065.2:c.88G>T, XM_011524065.1:c.88G>T, XM_017025302.2:c.-67G>T, XM_017025302.1:c.-67G>T, XM_017025303.1:c.-67G>T, XR_007065531.1:n.243G>T, NP_663729.1:p.Gly30Trp, XP_005256905.1:p.Gly30Trp, XP_011522367.1:p.Gly30Trp

Select item 14526882688.

rs1452688268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18018654 (GRCh38)
17:17921968 (GRCh37)
Canonical SPDI:: NC_000017.11:18018653:A:G
Gene:: ATPAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.18018654A>G, NC_000017.10:g.17921968A>G, NG_012824.1:g.25513T>C, NM_145691.4:c.765T>C, NM_145691.3:c.765T>C, XM_017025302.2:c.465T>C, XM_017025302.1:c.465T>C

Select item 14486472709.

rs1448647270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:18018630 (GRCh38)
17:17921944 (GRCh37)
Canonical SPDI:: NC_000017.11:18018629:C:G
Gene:: ATPAF2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.18018630C>G, NC_000017.10:g.17921944C>G, NG_012824.1:g.25537G>C, NM_145691.4:c.789G>C, NM_145691.3:c.789G>C, XM_017025302.2:c.489G>C, XM_017025302.1:c.489G>C

Select item 144270067210.

rs1442700672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:18038886 (GRCh38)
17:17942200 (GRCh37)
Canonical SPDI:: NC_000017.11:18038885:G:A,NC_000017.11:18038885:G:C
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.18038886G>A, NC_000017.11:g.18038886G>C, NC_000017.10:g.17942200G>A, NC_000017.10:g.17942200G>C, NG_012824.1:g.5281C>T, NG_012824.1:g.5281C>G, NM_145691.4:c.128C>T, NM_145691.4:c.128C>G, NM_145691.3:c.128C>T, NM_145691.3:c.128C>G, XM_005256848.5:c.128C>T, XM_005256848.5:c.128C>G, XM_005256848.4:c.128C>T, XM_005256848.4:c.128C>G, XM_005256848.3:c.128C>T, XM_005256848.3:c.128C>G, XM_005256848.2:c.128C>T, XM_005256848.2:c.128C>G, XM_005256848.1:c.128C>T, XM_005256848.1:c.128C>G, XM_011524065.2:c.128C>T, XM_011524065.2:c.128C>G, XM_011524065.1:c.128C>T, XM_011524065.1:c.128C>G, XM_017025302.2:c.-27C>T, XM_017025302.2:c.-27C>G, XM_017025302.1:c.-27C>T, XM_017025302.1:c.-27C>G, XM_017025303.1:c.-27C>T, XM_017025303.1:c.-27C>G, XR_007065531.1:n.283C>T, XR_007065531.1:n.283C>G, NP_663729.1:p.Pro43Leu, NP_663729.1:p.Pro43Arg, XP_005256905.1:p.Pro43Leu, XP_005256905.1:p.Pro43Arg, XP_011522367.1:p.Pro43Leu, XP_011522367.1:p.Pro43Arg

Select item 144265222611.

rs1442652226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18018636 (GRCh38)
17:17921950 (GRCh37)
Canonical SPDI:: NC_000017.11:18018635:C:T
Gene:: ATPAF2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18018636C>T, NC_000017.10:g.17921950C>T, NG_012824.1:g.25531G>A, NM_145691.4:c.783G>A, NM_145691.3:c.783G>A, XM_017025302.2:c.483G>A, XM_017025302.1:c.483G>A