SNP Links for Protein (Select 1004170587) - SNP

Select item 14019460111.

rs1401946011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:9528357 (GRCh38)
Y:9365966 (GRCh37)
Canonical SPDI:: NC_000024.10:9528356:C:G
Gene:: TSPY10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000024.10:g.9528357C>G, NC_000024.9:g.9365966C>G, NW_025791821.1:g.753017G>C, NM_001282469.3:c.432C>G, NM_001282469.2:c.432C>G, NM_001282469.1:c.432C>G, XR_001756003.2:n.478C>G, XR_001756003.1:n.453C>G, XM_017030025.2:c.432C>G, XM_017030025.1:c.432C>G, NM_001320962.1:c.432C>G, NP_001269398.1:p.His144Gln, XP_016885514.1:p.His144Gln, NP_001307891.1:p.His144Gln

Select item 13534613292.

rs1353461329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:9528251 (GRCh38)
Y:9365860 (GRCh37)
Canonical SPDI:: NC_000024.10:9528250:T:C
Gene:: TSPY10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.045/11 (ALFA)
C=0.395/49 (KOREAN)
HGVS:: NC_000024.10:g.9528251T>C, NC_000024.9:g.9365860T>C, NW_025791821.1:g.752911T>C, NM_001282469.3:c.326T>C, NM_001282469.2:c.326T>C, NM_001282469.1:c.326T>C, XR_001756003.2:n.372T>C, XR_001756003.1:n.347T>C, XM_017030025.2:c.326T>C, XM_017030025.1:c.326T>C, NM_001320962.1:c.326T>C, NP_001269398.1:p.Leu109Pro, XP_016885514.1:p.Leu109Pro, NP_001307891.1:p.Leu109Pro

Select item 12788825873.

rs1278882587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:9529022 (GRCh38)
Y:9366631 (GRCh37)
Canonical SPDI:: NC_000024.10:9529021:G:T
Gene:: TSPY10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.9529022G>T, NC_000024.9:g.9366631G>T, NW_025791821.1:g.753682G>T, NM_001282469.3:c.490G>T, NM_001282469.2:c.490G>T, NM_001282469.1:c.490G>T, XR_001756003.2:n.536G>T, XR_001756003.1:n.511G>T, XM_017030025.2:c.490G>T, XM_017030025.1:c.490G>T, NM_001320962.1:c.490G>T, NP_001269398.1:p.Ala164Ser, XP_016885514.1:p.Ala164Ser, NP_001307891.1:p.Ala164Ser

Select item 12254482704.

rs1225448270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:9529443 (GRCh38)
Y:9367052 (GRCh37)
Canonical SPDI:: NC_000024.10:9529442:A:G
Gene:: TSPY10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,splice_acceptor_variant
HGVS:: NC_000024.10:g.9529443A>G, NC_000024.9:g.9367052A>G, NW_025791821.1:g.754103A>G, NM_001282469.3:c.682A>G, NM_001282469.2:c.682A>G, NM_001282469.1:c.682A>G, NM_001320962.1:c.682A>G, NP_001269398.1:p.Arg228Gly, NP_001307891.1:p.Arg228Gly

Select item 7756962245.

rs775696224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAAGA>- [Show Flanks]
Chromosome:: Y:9529063 (GRCh38)
Y:9366672 (GRCh37)
Canonical SPDI:: NC_000024.10:9529057:GAAGATGAAGA:GAAGA
Gene:: TSPY10 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGA=0.115/82 (ALFA)
HGVS:: NC_000024.10:g.9529063_9529068del, NC_000024.9:g.9366672_9366677del, NW_025791821.1:g.753723_753728del, NM_001282469.3:c.531_536del, NM_001282469.2:c.531_536del, NM_001282469.1:c.531_536del, XR_001756003.2:n.577_582del, XR_001756003.1:n.552_557del, XM_017030025.2:c.531_536del, XM_017030025.1:c.531_536del, NM_001320962.1:c.531_536del, NP_001269398.1:p.176ED[1], XP_016885514.1:p.176ED[1], NP_001307891.1:p.176ED[1]

dbSNP