SNP Links for Protein (Select 767992673) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:18016227 (GRCh38)
17:17919541 (GRCh37)
Canonical SPDI:: NC_000017.11:18016226:G:C
Gene:: DRC3 (Varview), ATPAF2 (Varview)
Functional Consequence:: intron_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18016227G>C, NC_000017.10:g.17919541G>C, NG_012824.1:g.27940C>G, XM_011524065.2:c.766C>G, XM_011524065.1:c.766C>G, XM_017025303.1:c.466C>G, XP_011522367.1:p.Gln256Glu, XP_016880792.1:p.Gln156Glu

Select item 141485280915.

rs1414852809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18038983 (GRCh38)
17:17942297 (GRCh37)
Canonical SPDI:: NC_000017.11:18038982:C:T
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18038983C>T, NC_000017.10:g.17942297C>T, NG_012824.1:g.5184G>A, NM_145691.4:c.31G>A, NM_145691.3:c.31G>A, XM_005256848.5:c.31G>A, XM_005256848.4:c.31G>A, XM_005256848.3:c.31G>A, XM_005256848.2:c.31G>A, XM_005256848.1:c.31G>A, XM_011524065.2:c.31G>A, XM_011524065.1:c.31G>A, XM_017025302.2:c.-124G>A, XM_017025302.1:c.-124G>A, XM_017025303.1:c.-124G>A, XR_007065531.1:n.186G>A, NP_663729.1:p.Gly11Arg, XP_005256905.1:p.Gly11Arg, XP_011522367.1:p.Gly11Arg

Select item 141054352516.

rs1410543525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:18039010 (GRCh38)
17:17942324 (GRCh37)
Canonical SPDI:: NC_000017.11:18039009:A:C,NC_000017.11:18039009:A:G
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18039010A>C, NC_000017.11:g.18039010A>G, NC_000017.10:g.17942324A>C, NC_000017.10:g.17942324A>G, NG_012824.1:g.5157T>G, NG_012824.1:g.5157T>C, NM_145691.4:c.4T>G, NM_145691.4:c.4T>C, NM_145691.3:c.4T>G, NM_145691.3:c.4T>C, XM_005256848.5:c.4T>G, XM_005256848.5:c.4T>C, XM_005256848.4:c.4T>G, XM_005256848.4:c.4T>C, XM_005256848.3:c.4T>G, XM_005256848.3:c.4T>C, XM_005256848.2:c.4T>G, XM_005256848.2:c.4T>C, XM_005256848.1:c.4T>G, XM_005256848.1:c.4T>C, XM_011524065.2:c.4T>G, XM_011524065.2:c.4T>C, XM_011524065.1:c.4T>G, XM_011524065.1:c.4T>C, XM_017025302.2:c.-151T>G, XM_017025302.2:c.-151T>C, XM_017025302.1:c.-151T>G, XM_017025302.1:c.-151T>C, XM_017025303.1:c.-151T>G, XM_017025303.1:c.-151T>C, XR_007065531.1:n.159T>G, XR_007065531.1:n.159T>C, NP_663729.1:p.Trp2Gly, NP_663729.1:p.Trp2Arg, XP_005256905.1:p.Trp2Gly, XP_005256905.1:p.Trp2Arg, XP_011522367.1:p.Trp2Gly, XP_011522367.1:p.Trp2Arg

Select item 140640544617.

rs1406405446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18038924 (GRCh38)
17:17942238 (GRCh37)
Canonical SPDI:: NC_000017.11:18038923:C:T
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.18038924C>T, NC_000017.10:g.17942238C>T, NG_012824.1:g.5243G>A, NM_145691.4:c.90G>A, NM_145691.3:c.90G>A, XM_005256848.5:c.90G>A, XM_005256848.4:c.90G>A, XM_005256848.3:c.90G>A, XM_005256848.2:c.90G>A, XM_005256848.1:c.90G>A, XM_011524065.2:c.90G>A, XM_011524065.1:c.90G>A, XM_017025302.2:c.-65G>A, XM_017025302.1:c.-65G>A, XM_017025303.1:c.-65G>A, XR_007065531.1:n.245G>A

Select item 140373054118.

rs1403730541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18021822 (GRCh38)
17:17925136 (GRCh37)
Canonical SPDI:: NC_000017.11:18021821:A:G
Gene:: ATPAF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18021822A>G, NC_000017.10:g.17925136A>G, NG_012824.1:g.22345T>C, NM_145691.4:c.539T>C, NM_145691.3:c.539T>C, XM_005256848.5:c.539T>C, XM_005256848.4:c.539T>C, XM_005256848.3:c.539T>C, XM_005256848.2:c.539T>C, XM_005256848.1:c.539T>C, XM_011524065.2:c.539T>C, XM_011524065.1:c.539T>C, XM_017025302.2:c.239T>C, XM_017025302.1:c.239T>C, XM_017025303.1:c.239T>C, XR_007065531.1:n.694T>C, NP_663729.1:p.Met180Thr, XP_005256905.1:p.Met180Thr, XP_011522367.1:p.Met180Thr, XP_016880791.1:p.Met80Thr, XP_016880792.1:p.Met80Thr

Select item 140316178319.

rs1403161783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18038995 (GRCh38)
17:17942309 (GRCh37)
Canonical SPDI:: NC_000017.11:18038994:G:A
Gene:: GID4 (Varview), ATPAF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.18038995G>A, NC_000017.10:g.17942309G>A, NG_012824.1:g.5172C>T, NM_145691.4:c.19C>T, NM_145691.3:c.19C>T, XM_005256848.5:c.19C>T, XM_005256848.4:c.19C>T, XM_005256848.3:c.19C>T, XM_005256848.2:c.19C>T, XM_005256848.1:c.19C>T, XM_011524065.2:c.19C>T, XM_011524065.1:c.19C>T, XM_017025302.2:c.-136C>T, XM_017025302.1:c.-136C>T, XM_017025303.1:c.-136C>T, XR_007065531.1:n.174C>T, NP_663729.1:p.Arg7Trp, XP_005256905.1:p.Arg7Trp, XP_011522367.1:p.Arg7Trp

Select item 140053938120.

rs1400539381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:18024625 (GRCh38)
17:17927939 (GRCh37)
Canonical SPDI:: NC_000017.11:18024624:T:A
Gene:: ATPAF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.18024625T>A, NC_000017.10:g.17927939T>A, NG_012824.1:g.19542A>T, NM_145691.4:c.502A>T, NM_145691.3:c.502A>T, XM_005256848.5:c.502A>T, XM_005256848.4:c.502A>T, XM_005256848.3:c.502A>T, XM_005256848.2:c.502A>T, XM_005256848.1:c.502A>T, XM_011524065.2:c.502A>T, XM_011524065.1:c.502A>T, XM_017025302.2:c.202A>T, XM_017025302.1:c.202A>T, XM_017025303.1:c.202A>T, XR_007065531.1:n.657A>T, NP_663729.1:p.Arg168Ter, XP_005256905.1:p.Arg168Ter, XP_011522367.1:p.Arg168Ter, XP_016880791.1:p.Arg68Ter, XP_016880792.1:p.Arg68Ter

dbSNP