SNP Links for Nucleotide (Select 1200742295) - SNP

Links from Nucleotide

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Select item 14911007741.

rs1491100774 has merged into rs3075141 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 15:49328786 (GRCh38)
15:49620983 (GRCh37)
Canonical SPDI:: NC_000015.10:49328774:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:49328774:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:49328774:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:49328774:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:49328774:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:49328774:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: GALK2 (Varview), FAM227B (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0835/322 (ALSPAC)
T=0.3393/1699 (1000Genomes)
HGVS:: NC_000015.10:g.49328786_49328789del, NC_000015.10:g.49328787_49328789del, NC_000015.10:g.49328788_49328789del, NC_000015.10:g.49328789del, NC_000015.10:g.49328789dup, NC_000015.10:g.49328788_49328789dup, NC_000015.9:g.49620983_49620986del, NC_000015.9:g.49620984_49620986del, NC_000015.9:g.49620985_49620986del, NC_000015.9:g.49620986del, NC_000015.9:g.49620986dup, NC_000015.9:g.49620985_49620986dup, XM_006720461.5:c.*92_*95del, XM_006720461.5:c.*93_*95del, XM_006720461.5:c.*94_*95del, XM_006720461.5:c.*95del, XM_006720461.5:c.*95dup, XM_006720461.5:c.*94_*95dup, XM_006720461.4:c.*92_*95del, XM_006720461.4:c.*93_*95del, XM_006720461.4:c.*94_*95del, XM_006720461.4:c.*95del, XM_006720461.4:c.*95dup, XM_006720461.4:c.*94_*95dup, XM_006720461.3:c.*92_*95del, XM_006720461.3:c.*93_*95del, XM_006720461.3:c.*94_*95del, XM_006720461.3:c.*95del, XM_006720461.3:c.*95dup, XM_006720461.3:c.*94_*95dup, XM_006720461.2:c.*92_*95del, XM_006720461.2:c.*93_*95del, XM_006720461.2:c.*94_*95del, XM_006720461.2:c.*95del, XM_006720461.2:c.*95dup, XM_006720461.2:c.*94_*95dup, XM_006720461.1:c.*92_*95del, XM_006720461.1:c.*93_*95del, XM_006720461.1:c.*94_*95del, XM_006720461.1:c.*95del, XM_006720461.1:c.*95dup, XM_006720461.1:c.*94_*95dup, NM_002044.4:c.*627_*630del, NM_002044.4:c.*628_*630del, NM_002044.4:c.*629_*630del, NM_002044.4:c.*630del, NM_002044.4:c.*630dup, NM_002044.4:c.*629_*630dup, NM_002044.3:c.*627_*630del, NM_002044.3:c.*628_*630del, NM_002044.3:c.*629_*630del, NM_002044.3:c.*630del, NM_002044.3:c.*630dup, NM_002044.3:c.*629_*630dup, NM_002044.2:c.*627_*630del, NM_002044.2:c.*628_*630del, NM_002044.2:c.*629_*630del, NM_002044.2:c.*630del, NM_002044.2:c.*630dup, NM_002044.2:c.*629_*630dup, NM_001001556.3:c.*627_*630del, NM_001001556.3:c.*628_*630del, NM_001001556.3:c.*629_*630del, NM_001001556.3:c.*630del, NM_001001556.3:c.*630dup, NM_001001556.3:c.*629_*630dup, NM_001001556.2:c.*627_*630del, NM_001001556.2:c.*628_*630del, NM_001001556.2:c.*629_*630del, NM_001001556.2:c.*630del, NM_001001556.2:c.*630dup, NM_001001556.2:c.*629_*630dup, NM_001001556.1:c.*627_*630del, NM_001001556.1:c.*628_*630del, NM_001001556.1:c.*629_*630del, NM_001001556.1:c.*630del, NM_001001556.1:c.*630dup, NM_001001556.1:c.*629_*630dup, NM_001289030.2:c.*627_*630del, NM_001289030.2:c.*628_*630del, NM_001289030.2:c.*629_*630del, NM_001289030.2:c.*630del, NM_001289030.2:c.*630dup, NM_001289030.2:c.*629_*630dup, NM_001289030.1:c.*627_*630del, NM_001289030.1:c.*628_*630del, NM_001289030.1:c.*629_*630del, NM_001289030.1:c.*630del, NM_001289030.1:c.*630dup, NM_001289030.1:c.*629_*630dup, NR_147895.2:n.2126_2129del, NR_147895.2:n.2127_2129del, NR_147895.2:n.2128_2129del, NR_147895.2:n.2129del, NR_147895.2:n.2129dup, NR_147895.2:n.2128_2129dup, NR_147895.1:n.2357_2360del, NR_147895.1:n.2358_2360del, NR_147895.1:n.2359_2360del, NR_147895.1:n.2360del, NR_147895.1:n.2360dup, NR_147895.1:n.2359_2360dup, NM_001352048.2:c.*92_*95del, NM_001352048.2:c.*93_*95del, NM_001352048.2:c.*94_*95del, NM_001352048.2:c.*95del, NM_001352048.2:c.*95dup, NM_001352048.2:c.*94_*95dup, NM_001352048.1:c.*92_*95del, NM_001352048.1:c.*93_*95del, NM_001352048.1:c.*94_*95del, NM_001352048.1:c.*95del, NM_001352048.1:c.*95dup, NM_001352048.1:c.*94_*95dup, XM_047432353.1:c.*627_*630del, XM_047432353.1:c.*628_*630del, XM_047432353.1:c.*629_*630del, XM_047432353.1:c.*630del, XM_047432353.1:c.*630dup, XM_047432353.1:c.*629_*630dup, NM_001289031.1:c.*627_*630del, NM_001289031.1:c.*628_*630del, NM_001289031.1:c.*629_*630del, NM_001289031.1:c.*630del, NM_001289031.1:c.*630dup, NM_001289031.1:c.*629_*630dup, NM_001352047.1:c.*92_*95del, NM_001352047.1:c.*93_*95del, NM_001352047.1:c.*94_*95del, NM_001352047.1:c.*95del, NM_001352047.1:c.*95dup, NM_001352047.1:c.*94_*95dup, XM_047432350.1:c.*92_*95del, XM_047432350.1:c.*93_*95del, XM_047432350.1:c.*94_*95del, XM_047432350.1:c.*95del, XM_047432350.1:c.*95dup, XM_047432350.1:c.*94_*95dup, XM_047432349.1:c.*92_*95del, XM_047432349.1:c.*93_*95del, XM_047432349.1:c.*94_*95del, XM_047432349.1:c.*95del, XM_047432349.1:c.*95dup, XM_047432349.1:c.*94_*95dup

Select item 14855562372.

rs1485556237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:49235892 (GRCh38)
15:49528089 (GRCh37)
Canonical SPDI:: NC_000015.10:49235891:C:G
Gene:: GALK2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49235892C>G, NC_000015.9:g.49528089C>G, XM_006720461.5:c.308C>G, XM_006720461.4:c.308C>G, XM_006720461.3:c.308C>G, XM_006720461.2:c.308C>G, XM_006720461.1:c.308C>G, NM_002044.4:c.308C>G, NM_002044.3:c.308C>G, NM_002044.2:c.308C>G, NM_001001556.3:c.275C>G, NM_001001556.2:c.275C>G, NM_001001556.1:c.275C>G, NM_001289030.2:c.236C>G, NM_001289030.1:c.236C>G, NR_147895.2:n.384C>G, NR_147895.1:n.615C>G, NM_001352048.2:c.-80C>G, NM_001352048.1:c.-80C>G, XM_024449892.2:c.236C>G, XM_024449892.1:c.236C>G, XM_024449894.2:c.236C>G, XM_024449894.1:c.236C>G, XM_047432352.1:c.-80C>G, XM_047432353.1:c.236C>G, NM_001289031.1:c.236C>G, NM_001352047.1:c.-80C>G, XM_047432350.1:c.236C>G, XM_047432349.1:c.275C>G, XM_047432347.1:c.236C>G, XM_047432348.1:c.236C>G, XM_047432351.1:c.-80C>G, XM_047432354.1:c.236C>G, XP_006720524.1:p.Thr103Ser, NP_002035.1:p.Thr103Ser, NP_001001556.1:p.Thr92Ser, NP_001275959.1:p.Thr79Ser, XP_024305660.1:p.Thr79Ser, XP_024305662.1:p.Thr79Ser, XP_047288309.1:p.Thr79Ser, NP_001275960.1:p.Thr79Ser, XP_047288306.1:p.Thr79Ser, XP_047288305.1:p.Thr92Ser, XP_047288303.1:p.Thr79Ser, XP_047288304.1:p.Thr79Ser, XP_047288310.1:p.Thr79Ser

Select item 14851173513.

rs1485117351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:49292360 (GRCh38)
15:49584557 (GRCh37)
Canonical SPDI:: NC_000015.10:49292359:A:G
Gene:: GALK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49292360A>G, NC_000015.9:g.49584557A>G, XM_006720461.5:c.790A>G, XM_006720461.4:c.790A>G, XM_006720461.3:c.790A>G, XM_006720461.2:c.790A>G, XM_006720461.1:c.790A>G, NM_002044.4:c.790A>G, NM_002044.3:c.790A>G, NM_002044.2:c.790A>G, NM_001001556.3:c.757A>G, NM_001001556.2:c.757A>G, NM_001001556.1:c.757A>G, NM_001289030.2:c.718A>G, NM_001289030.1:c.718A>G, NR_147895.2:n.866A>G, NR_147895.1:n.1097A>G, NM_001352048.2:c.403A>G, NM_001352048.1:c.403A>G, XM_024449892.2:c.718A>G, XM_024449892.1:c.718A>G, XM_024449894.2:c.619A>G, XM_024449894.1:c.619A>G, XM_047432352.1:c.403A>G, XM_047432353.1:c.466A>G, NM_001289031.1:c.718A>G, NM_001352047.1:c.403A>G, XM_047432350.1:c.718A>G, XM_047432349.1:c.757A>G, XM_047432347.1:c.718A>G, XM_047432348.1:c.718A>G, XM_047432351.1:c.403A>G, XM_047432354.1:c.718A>G, XP_006720524.1:p.Lys264Glu, NP_002035.1:p.Lys264Glu, NP_001001556.1:p.Lys253Glu, NP_001275959.1:p.Lys240Glu, NP_001338977.1:p.Lys135Glu, XP_024305660.1:p.Lys240Glu, XP_024305662.1:p.Lys207Glu, XP_047288308.1:p.Lys135Glu, XP_047288309.1:p.Lys156Glu, NP_001275960.1:p.Lys240Glu, NP_001338976.1:p.Lys135Glu, XP_047288306.1:p.Lys240Glu, XP_047288305.1:p.Lys253Glu, XP_047288303.1:p.Lys240Glu, XP_047288304.1:p.Lys240Glu, XP_047288307.1:p.Lys135Glu, XP_047288310.1:p.Lys240Glu

Select item 14850546914.

rs1485054691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:49225336 (GRCh38)
15:49517533 (GRCh37)
Canonical SPDI:: NC_000015.10:49225335:C:T
Gene:: GALK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.49225336C>T, NC_000015.9:g.49517533C>T, NM_001352048.2:c.-135C>T, NM_001352048.1:c.-135C>T, NM_001352047.1:c.-135C>T, XM_047432351.1:c.-135C>T

Select item 14842205455.

rs1484220545 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:49225341 (GRCh38)
15:49517538 (GRCh37)
Canonical SPDI:: NC_000015.10:49225336:CACACA:CACA
Gene:: GALK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.49225337CA[2], NC_000015.9:g.49517534CA[2], NM_001352048.2:c.-134CA[2], NM_001352048.1:c.-134CA[2], NM_001352047.1:c.-134CA[2], XM_047432351.1:c.-134CA[2]