SNP Links for Protein (Select 9945308) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:39553961 (GRCh38)
12:39947763 (GRCh37)
Canonical SPDI:: NC_000012.12:39553960:C:T
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.39553961C>T, NC_000012.11:g.39947763C>T, NM_005164.4:c.2174G>A, NM_005164.3:c.2174G>A, NP_005155.1:p.Gly725Glu

Select item 14782462758.

rs1478246275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:39618963 (GRCh38)
12:40012765 (GRCh37)
Canonical SPDI:: NC_000012.12:39618962:G:C
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.39618963G>C, NC_000012.11:g.40012765G>C, NM_005164.4:c.653C>G, NM_005164.3:c.653C>G, XM_017018993.3:c.653C>G, XM_017018993.2:c.653C>G, XM_017018993.1:c.653C>G, XM_017018992.3:c.653C>G, XM_017018992.2:c.653C>G, XM_017018992.1:c.653C>G, XR_001748623.3:n.841C>G, XR_001748623.2:n.1537C>G, XR_001748623.1:n.1079C>G, XM_047428505.1:c.653C>G, NP_005155.1:p.Ser218Cys, XP_016874482.1:p.Ser218Cys, XP_016874481.1:p.Ser218Cys, XP_047284461.1:p.Ser218Cys

Select item 14775479729.

rs1477547972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:39607706 (GRCh38)
12:40001508 (GRCh37)
Canonical SPDI:: NC_000012.12:39607705:G:A
Gene:: ABCD2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.39607706G>A, NC_000012.11:g.40001508G>A, NM_005164.4:c.1129C>T, NM_005164.3:c.1129C>T, XM_017018993.3:c.1129C>T, XM_017018993.2:c.1129C>T, XM_017018993.1:c.1129C>T, XM_017018992.3:c.1129C>T, XM_017018992.2:c.1129C>T, XM_017018992.1:c.1129C>T, XR_001748623.3:n.1317C>T, XR_001748623.2:n.2013C>T, XR_001748623.1:n.1555C>T, XM_047428505.1:c.1129C>T, NP_005155.1:p.Gln377Ter, XP_016874482.1:p.Gln377Ter, XP_016874481.1:p.Gln377Ter, XP_047284461.1:p.Gln377Ter

Select item 147399690410.

rs1473996904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:39619410 (GRCh38)
12:40013212 (GRCh37)
Canonical SPDI:: NC_000012.12:39619409:G:A
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.39619410G>A, NC_000012.11:g.40013212G>A, NM_005164.4:c.206C>T, NM_005164.3:c.206C>T, XM_017018993.3:c.206C>T, XM_017018993.2:c.206C>T, XM_017018993.1:c.206C>T, XM_017018992.3:c.206C>T, XM_017018992.2:c.206C>T, XM_017018992.1:c.206C>T, XR_001748623.3:n.394C>T, XR_001748623.2:n.1090C>T, XR_001748623.1:n.632C>T, XM_047428505.1:c.206C>T, NP_005155.1:p.Thr69Ile, XP_016874482.1:p.Thr69Ile, XP_016874481.1:p.Thr69Ile, XP_047284461.1:p.Thr69Ile

Select item 147317083111.

rs1473170831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:39618944 (GRCh38)
12:40012746 (GRCh37)
Canonical SPDI:: NC_000012.12:39618943:C:G
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000057/8 (GnomAD)
HGVS:: NC_000012.12:g.39618944C>G, NC_000012.11:g.40012746C>G, NM_005164.4:c.672G>C, NM_005164.3:c.672G>C, XM_017018993.3:c.672G>C, XM_017018993.2:c.672G>C, XM_017018993.1:c.672G>C, XM_017018992.3:c.672G>C, XM_017018992.2:c.672G>C, XM_017018992.1:c.672G>C, XR_001748623.3:n.860G>C, XR_001748623.2:n.1556G>C, XR_001748623.1:n.1098G>C, XM_047428505.1:c.672G>C, NP_005155.1:p.Leu224Phe, XP_016874482.1:p.Leu224Phe, XP_016874481.1:p.Leu224Phe, XP_047284461.1:p.Leu224Phe

Select item 147251760212.

rs1472517602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:39619557 (GRCh38)
12:40013359 (GRCh37)
Canonical SPDI:: NC_000012.12:39619556:G:A
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.39619557G>A, NC_000012.11:g.40013359G>A, NM_005164.4:c.59C>T, NM_005164.3:c.59C>T, XM_017018993.3:c.59C>T, XM_017018993.2:c.59C>T, XM_017018993.1:c.59C>T, XM_017018992.3:c.59C>T, XM_017018992.2:c.59C>T, XM_017018992.1:c.59C>T, XR_001748623.3:n.247C>T, XR_001748623.2:n.943C>T, XR_001748623.1:n.485C>T, XM_047428505.1:c.59C>T, NP_005155.1:p.Ala20Val, XP_016874482.1:p.Ala20Val, XP_016874481.1:p.Ala20Val, XP_047284461.1:p.Ala20Val

Select item 147097159713.

rs1470971597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:39573797 (GRCh38)
12:39967599 (GRCh37)
Canonical SPDI:: NC_000012.12:39573796:A:G
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.39573797A>G, NC_000012.11:g.39967599A>G, NM_005164.4:c.1922T>C, NM_005164.3:c.1922T>C, XM_017018992.3:c.1922T>C, XM_017018992.2:c.1922T>C, XM_017018992.1:c.1922T>C, NP_005155.1:p.Ile641Thr, XP_016874481.1:p.Ile641Thr

Select item 146984497514.

rs1469844975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:39554119 (GRCh38)
12:39947921 (GRCh37)
Canonical SPDI:: NC_000012.12:39554118:T:C
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.39554119T>C, NC_000012.11:g.39947921T>C, NM_005164.4:c.2016A>G, NM_005164.3:c.2016A>G

Select item 146832563515.

rs1468325635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:39619264 (GRCh38)
12:40013066 (GRCh37)
Canonical SPDI:: NC_000012.12:39619263:T:G
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.39619264T>G, NC_000012.11:g.40013066T>G, NM_005164.4:c.352A>C, NM_005164.3:c.352A>C, XM_017018993.3:c.352A>C, XM_017018993.2:c.352A>C, XM_017018993.1:c.352A>C, XM_017018992.3:c.352A>C, XM_017018992.2:c.352A>C, XM_017018992.1:c.352A>C, XR_001748623.3:n.540A>C, XR_001748623.2:n.1236A>C, XR_001748623.1:n.778A>C, XM_047428505.1:c.352A>C, NP_005155.1:p.Thr118Pro, XP_016874482.1:p.Thr118Pro, XP_016874481.1:p.Thr118Pro, XP_047284461.1:p.Thr118Pro

Select item 146751407716.

rs1467514077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:39618854 (GRCh38)
12:40012656 (GRCh37)
Canonical SPDI:: NC_000012.12:39618853:A:G
Gene:: ABCD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.39618854A>G, NC_000012.11:g.40012656A>G, NM_005164.4:c.762T>C, NM_005164.3:c.762T>C, XM_017018993.3:c.762T>C, XM_017018993.2:c.762T>C, XM_017018993.1:c.762T>C, XM_017018992.3:c.762T>C, XM_017018992.2:c.762T>C, XM_017018992.1:c.762T>C, XR_001748623.3:n.950T>C, XR_001748623.2:n.1646T>C, XR_001748623.1:n.1188T>C, XM_047428505.1:c.762T>C

Select item 146730924417.

rs1467309244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:39604795 (GRCh38)
12:39998597 (GRCh37)
Canonical SPDI:: NC_000012.12:39604794:C:A
Gene:: ABCD2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00011/2 (TOMMO)
HGVS:: NC_000012.12:g.39604795C>A, NC_000012.11:g.39998597C>A, NM_005164.4:c.1372G>T, NM_005164.3:c.1372G>T, XM_017018993.3:c.1372G>T, XM_017018993.2:c.1372G>T, XM_017018993.1:c.1372G>T, XM_017018992.3:c.1372G>T, XM_017018992.2:c.1372G>T, XM_017018992.1:c.1372G>T, XR_001748623.3:n.1560G>T, XR_001748623.2:n.2256G>T, XR_001748623.1:n.1798G>T, XM_047428505.1:c.1372G>T, NP_005155.1:p.Glu458Ter, XP_016874482.1:p.Glu458Ter, XP_016874481.1:p.Glu458Ter, XP_047284461.1:p.Glu458Ter

Select item 146109552418.

rs1461095524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:39554010 (GRCh38)
12:39947812 (GRCh37)
Canonical SPDI:: NC_000012.12:39554009:C:T
Gene:: ABCD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.39554010C>T, NC_000012.11:g.39947812C>T, NM_005164.4:c.2125G>A, NM_005164.3:c.2125G>A, NP_005155.1:p.Gly709Arg