SNP Links for Gene (Select 64591) - SNP - NCBI

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Links from Gene

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Select item 14834285721.

rs1483428572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:6248022 (GRCh38)
Y:6116063 (GRCh37)
Canonical SPDI:: NC_000024.10:6248021:G:C
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.6248022G>C, NC_000024.9:g.6116063G>C, XM_005262569.5:c.829G>C, XM_005262569.4:c.829G>C, XM_005262569.3:c.829G>C, XM_005262569.2:c.829G>C, XM_005262569.1:c.829G>C, XR_001756004.2:n.868G>C, XR_001756004.1:n.828G>C, XP_005262626.1:p.Asp277His

Select item 14777788232.

rs1477778823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:6249227 (GRCh38)
Y:6117268 (GRCh37)
Canonical SPDI:: NC_000024.10:6249226:A:G
Gene:: TSPY2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000024.10:g.6249227A>G, NC_000024.9:g.6117268A>G

Select item 14721172033.

rs1472117203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:6246285 (GRCh38)
Y:6114326 (GRCh37)
Canonical SPDI:: NC_000024.10:6246284:C:T
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.6246285C>T, NC_000024.9:g.6114326C>T, XM_005262569.5:c.17C>T, XM_005262569.4:c.17C>T, XM_005262569.3:c.17C>T, XM_005262569.2:c.17C>T, XM_005262569.1:c.17C>T, NM_022573.4:c.17C>T, NM_022573.3:c.17C>T, NM_022573.2:c.17C>T, XR_001756004.2:n.63C>T, XR_001756004.1:n.23C>T, XM_017030062.2:c.17C>T, XM_017030062.1:c.17C>T, XP_005262626.1:p.Ser6Leu, NP_072095.2:p.Ser6Leu, XP_016885551.1:p.Ser6Leu

Select item 14721067974.

rs1472106797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: Y:6247350 (GRCh38)
Y:6115391 (GRCh37)
Canonical SPDI:: NC_000024.10:6247349:A:C
Gene:: TSPY2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.6247350A>C, NC_000024.9:g.6115391A>C

Select item 14693823355.

rs1469382335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:6246691 (GRCh38)
Y:6114732 (GRCh37)
Canonical SPDI:: NC_000024.10:6246690:C:G
Gene:: TSPY2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000024.10:g.6246691C>G, NC_000024.9:g.6114732C>G, XM_005262569.5:c.423C>G, XM_005262569.4:c.423C>G, XM_005262569.3:c.423C>G, XM_005262569.2:c.423C>G, XM_005262569.1:c.423C>G, NM_022573.4:c.423C>G, NM_022573.3:c.423C>G, NM_022573.2:c.423C>G, XR_001756004.2:n.469C>G, XR_001756004.1:n.429C>G, XM_017030062.2:c.423C>G, XM_017030062.1:c.423C>G

Select item 14654758806.

rs1465475880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:6249023 (GRCh38)
Y:6117064 (GRCh37)
Canonical SPDI:: NC_000024.10:6249022:C:G
Gene:: TSPY2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00266/29 (GnomAD)
HGVS:: NC_000024.10:g.6249023C>G, NC_000024.9:g.6117064C>G

Select item 14583379887.

rs1458337988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:6247368 (GRCh38)
Y:6115409 (GRCh37)
Canonical SPDI:: NC_000024.10:6247367:C:T
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.6247368C>T, NC_000024.9:g.6115409C>T, XM_005262569.5:c.499C>T, XM_005262569.4:c.499C>T, XM_005262569.3:c.499C>T, XM_005262569.2:c.499C>T, XM_005262569.1:c.499C>T, NM_022573.4:c.499C>T, NM_022573.3:c.499C>T, NM_022573.2:c.499C>T, XR_001756004.2:n.545C>T, XR_001756004.1:n.505C>T, XM_017030062.2:c.499C>T, XM_017030062.1:c.499C>T, XP_005262626.1:p.Pro167Ser, NP_072095.2:p.Pro167Ser, XP_016885551.1:p.Pro167Ser

Select item 14566678418.

rs1456667841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:6246729 (GRCh38)
Y:6114770 (GRCh37)
Canonical SPDI:: NC_000024.10:6246728:G:T
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.6246729G>T, NC_000024.9:g.6114770G>T, XM_005262569.5:c.461G>T, XM_005262569.4:c.461G>T, XM_005262569.3:c.461G>T, XM_005262569.2:c.461G>T, XM_005262569.1:c.461G>T, NM_022573.4:c.461G>T, NM_022573.3:c.461G>T, NM_022573.2:c.461G>T, XR_001756004.2:n.507G>T, XR_001756004.1:n.467G>T, XM_017030062.2:c.461G>T, XM_017030062.1:c.461G>T, XP_005262626.1:p.Ser154Ile, NP_072095.2:p.Ser154Ile, XP_016885551.1:p.Ser154Ile

Select item 14553386109.

rs1455338610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: Y:6246446 (GRCh38)
Y:6114487 (GRCh37)
Canonical SPDI:: NC_000024.10:6246445:G:C,NC_000024.10:6246445:G:T
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0008/2 (ALFA)
HGVS:: NC_000024.10:g.6246446G>C, NC_000024.10:g.6246446G>T, NC_000024.9:g.6114487G>C, NC_000024.9:g.6114487G>T, XM_005262569.5:c.178G>C, XM_005262569.5:c.178G>T, XM_005262569.4:c.178G>C, XM_005262569.4:c.178G>T, XM_005262569.3:c.178G>C, XM_005262569.3:c.178G>T, XM_005262569.2:c.178G>C, XM_005262569.2:c.178G>T, XM_005262569.1:c.178G>C, XM_005262569.1:c.178G>T, NM_022573.4:c.178G>C, NM_022573.4:c.178G>T, NM_022573.3:c.178G>C, NM_022573.3:c.178G>T, NM_022573.2:c.178G>C, NM_022573.2:c.178G>T, XR_001756004.2:n.224G>C, XR_001756004.2:n.224G>T, XR_001756004.1:n.184G>C, XR_001756004.1:n.184G>T, XM_017030062.2:c.178G>C, XM_017030062.2:c.178G>T, XM_017030062.1:c.178G>C, XM_017030062.1:c.178G>T, XP_005262626.1:p.Gly60Arg, XP_005262626.1:p.Gly60Trp, NP_072095.2:p.Gly60Arg, NP_072095.2:p.Gly60Trp, XP_016885551.1:p.Gly60Arg, XP_016885551.1:p.Gly60Trp

Select item 144939417310.

rs1449394173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:6246403 (GRCh38)
Y:6114444 (GRCh37)
Canonical SPDI:: NC_000024.10:6246402:G:A
Gene:: TSPY2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.00042/6 (GnomAD_exomes)
HGVS:: NC_000024.10:g.6246403G>A, NC_000024.9:g.6114444G>A, XM_005262569.5:c.135G>A, XM_005262569.4:c.135G>A, XM_005262569.3:c.135G>A, XM_005262569.2:c.135G>A, XM_005262569.1:c.135G>A, NM_022573.4:c.135G>A, NM_022573.3:c.135G>A, NM_022573.2:c.135G>A, XR_001756004.2:n.181G>A, XR_001756004.1:n.141G>A, XM_017030062.2:c.135G>A, XM_017030062.1:c.135G>A

Select item 144577754711.

rs1445777547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:6246324 (GRCh38)
Y:6114365 (GRCh37)
Canonical SPDI:: NC_000024.10:6246323:C:T
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00127/6 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00084/41 (GnomAD_exomes)
T=0.00217/3 (KOREAN)
HGVS:: NC_000024.10:g.6246324C>T, NC_000024.9:g.6114365C>T, XM_005262569.5:c.56C>T, XM_005262569.4:c.56C>T, XM_005262569.3:c.56C>T, XM_005262569.2:c.56C>T, XM_005262569.1:c.56C>T, NM_022573.4:c.56C>T, NM_022573.3:c.56C>T, NM_022573.2:c.56C>T, XR_001756004.2:n.102C>T, XR_001756004.1:n.62C>T, XM_017030062.2:c.56C>T, XM_017030062.1:c.56C>T, XP_005262626.1:p.Ser19Phe, NP_072095.2:p.Ser19Phe, XP_016885551.1:p.Ser19Phe

Select item 144461453312.

rs1444614533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:6246778 (GRCh38)
Y:6114819 (GRCh37)
Canonical SPDI:: NC_000024.10:6246777:G:T
Gene:: TSPY2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/2 (GnomAD_exomes)
T=0.00011/1 (GnomAD)
HGVS:: NC_000024.10:g.6246778G>T, NC_000024.9:g.6114819G>T

Select item 144099953913.

rs1440999539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:6246382 (GRCh38)
Y:6114423 (GRCh37)
Canonical SPDI:: NC_000024.10:6246381:C:T
Gene:: TSPY2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00007/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.6246382C>T, NC_000024.9:g.6114423C>T, XM_005262569.5:c.114C>T, XM_005262569.4:c.114C>T, XM_005262569.3:c.114C>T, XM_005262569.2:c.114C>T, XM_005262569.1:c.114C>T, NM_022573.4:c.114C>T, NM_022573.3:c.114C>T, NM_022573.2:c.114C>T, XR_001756004.2:n.160C>T, XR_001756004.1:n.120C>T, XM_017030062.2:c.114C>T, XM_017030062.1:c.114C>T

Select item 143540005914.

rs1435400059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:6246117 (GRCh38)
Y:6114158 (GRCh37)
Canonical SPDI:: NC_000024.10:6246116:G:A
Gene:: TSPY2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000024.10:g.6246117G>A, NC_000024.9:g.6114158G>A

Select item 143424921315.

rs1434249213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:6246604 (GRCh38)
Y:6114645 (GRCh37)
Canonical SPDI:: NC_000024.10:6246603:G:A
Gene:: TSPY2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.00007/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.6246604G>A, NC_000024.9:g.6114645G>A, XM_005262569.5:c.336G>A, XM_005262569.4:c.336G>A, XM_005262569.3:c.336G>A, XM_005262569.2:c.336G>A, XM_005262569.1:c.336G>A, NM_022573.4:c.336G>A, NM_022573.3:c.336G>A, NM_022573.2:c.336G>A, XR_001756004.2:n.382G>A, XR_001756004.1:n.342G>A, XM_017030062.2:c.336G>A, XM_017030062.1:c.336G>A

Select item 143023672116.

rs1430236721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:6248856 (GRCh38)
Y:6116897 (GRCh37)
Canonical SPDI:: NC_000024.10:6248855:C:T
Gene:: TSPY2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.6248856C>T, NC_000024.9:g.6116897C>T, XM_005262569.5:c.*84C>T, XM_005262569.4:c.*84C>T, XM_005262569.3:c.*84C>T, XM_005262569.2:c.*84C>T, XM_005262569.1:c.*84C>T, NM_022573.4:c.*31C>T, NM_022573.3:c.*31C>T, NM_022573.2:c.*31C>T, XR_001756004.2:n.1008C>T, XM_017030062.2:c.*84C>T, XM_017030062.1:c.*84C>T

Select item 142913939517.

rs1429139395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:6245367 (GRCh38)
Y:6113408 (GRCh37)
Canonical SPDI:: NC_000024.10:6245366:T:A
Gene:: TSPY2 (Varview), TTTY23B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000024.10:g.6245367T>A, NC_000024.9:g.6113408T>A

Select item 142803942418.

rs1428039424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:6247802 (GRCh38)
Y:6115843 (GRCh37)
Canonical SPDI:: NC_000024.10:6247801:T:C
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01273/29 (ALFA)
C=0.00534/64 (GnomAD_exomes)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000024.10:g.6247802T>C, NC_000024.9:g.6115843T>C, XM_005262569.5:c.704T>C, XM_005262569.4:c.704T>C, XM_005262569.3:c.704T>C, XM_005262569.2:c.704T>C, XM_005262569.1:c.704T>C, NM_022573.4:c.704T>C, NM_022573.3:c.704T>C, NM_022573.2:c.704T>C, XR_001756004.2:n.743T>C, XR_001756004.1:n.703T>C, XM_017030062.2:c.697T>C, XM_017030062.1:c.697T>C, XP_005262626.1:p.Ile235Thr, NP_072095.2:p.Ile235Thr

Select item 142437103719.

rs1424371037 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: Y:6247580 (GRCh38)
Y:6115621 (GRCh37)
Canonical SPDI:: NC_000024.10:6247579:C:
Gene:: TSPY2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000024.10:g.6247580del, NC_000024.9:g.6115621del, XM_005262569.5:c.583del, XM_005262569.4:c.583del, XM_005262569.3:c.583del, XM_005262569.2:c.583del, XM_005262569.1:c.583del, NM_022573.4:c.583del, NM_022573.3:c.583del, NM_022573.2:c.583del, XR_001756004.2:n.629del, XR_001756004.1:n.589del, XM_017030062.2:c.583del, XM_017030062.1:c.583del, XP_005262626.1:p.Arg195fs, NP_072095.2:p.Arg195fs, XP_016885551.1:p.Arg195fs

Select item 141248596720.

rs1412485967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:6246506 (GRCh38)
Y:6114547 (GRCh37)
Canonical SPDI:: NC_000024.10:6246505:G:C
Gene:: TSPY2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.00015/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.6246506G>C, NC_000024.9:g.6114547G>C, XM_005262569.5:c.238G>C, XM_005262569.4:c.238G>C, XM_005262569.3:c.238G>C, XM_005262569.2:c.238G>C, XM_005262569.1:c.238G>C, NM_022573.4:c.238G>C, NM_022573.3:c.238G>C, NM_022573.2:c.238G>C, XR_001756004.2:n.284G>C, XR_001756004.1:n.244G>C, XM_017030062.2:c.238G>C, XM_017030062.1:c.238G>C, XP_005262626.1:p.Glu80Gln, NP_072095.2:p.Glu80Gln, XP_016885551.1:p.Glu80Gln

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