SNP Links for Protein (Select 1004170694) - SNP - NCBI

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Links from Protein

Items: 4

Select item 14819429531.

rs1481942953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: Y:21548755 (GRCh38)
Y:23710641 (GRCh37)
Canonical SPDI:: NC_000024.10:21548754:T:G
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.2054/283 (KOREAN)
HGVS:: NC_000024.10:g.21548755T>G, NC_000024.9:g.23710641T>G, NG_004832.1:g.238095T>G, NG_012805.1:g.18843T>G, NM_005058.4:c.1198T>G, NM_005058.3:c.1198T>G, NM_005058.2:c.1198T>G, NM_001320944.2:c.1087T>G, NM_001320944.1:c.1087T>G, NM_001320945.2:c.778T>G, NM_001320945.1:c.778T>G, NP_005049.1:p.Ser400Ala, NP_001307873.1:p.Ser363Ala, NP_001307874.1:p.Ser260Ala

Select item 14327766852.

rs1432776685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:21548266 (GRCh38)
Y:23710152 (GRCh37)
Canonical SPDI:: NC_000024.10:21548265:G:A
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (SGDP_PRJ)
HGVS:: NC_000024.10:g.21548266G>A, NC_000024.9:g.23710152G>A, NG_004832.1:g.237606G>A, NG_012805.1:g.18354G>A, NM_005058.4:c.1120G>A, NM_005058.3:c.1120G>A, NM_005058.2:c.1120G>A, NM_001320944.2:c.1009G>A, NM_001320944.1:c.1009G>A, NM_001320945.2:c.700G>A, NM_001320945.1:c.700G>A, XM_011531437.3:c.1120G>A, XM_011531437.2:c.1120G>A, XM_011531437.1:c.1120G>A, NP_005049.1:p.Gly374Ser, NP_001307873.1:p.Gly337Ser, NP_001307874.1:p.Gly234Ser, XP_011529739.1:p.Gly374Ser

Select item 13001727203.

rs1300172720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:21548291 (GRCh38)
Y:23710177 (GRCh37)
Canonical SPDI:: NC_000024.10:21548290:C:G
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.21548291C>G, NC_000024.9:g.23710177C>G, NG_004832.1:g.237631C>G, NG_012805.1:g.18379C>G, NM_005058.4:c.1145C>G, NM_005058.3:c.1145C>G, NM_005058.2:c.1145C>G, NM_001320944.2:c.1034C>G, NM_001320944.1:c.1034C>G, NM_001320945.2:c.725C>G, NM_001320945.1:c.725C>G, XM_011531437.3:c.1145C>G, XM_011531437.2:c.1145C>G, XM_011531437.1:c.1145C>G, NP_005049.1:p.Ser382Cys, NP_001307873.1:p.Ser345Cys, NP_001307874.1:p.Ser242Cys, XP_011529739.1:p.Ser382Cys

Select item 11991892624.

rs1199189262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:21548873 (GRCh38)
Y:23710759 (GRCh37)
Canonical SPDI:: NC_000024.10:21548872:G:T
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.21548873G>T, NC_000024.9:g.23710759G>T, NG_004832.1:g.238213G>T, NG_012805.1:g.18961G>T, NM_005058.4:c.1316G>T, NM_005058.3:c.1316G>T, NM_005058.2:c.1316G>T, NM_001320944.2:c.1205G>T, NM_001320944.1:c.1205G>T, NM_001320945.2:c.896G>T, NM_001320945.1:c.896G>T, NP_005049.1:p.Gly439Val, NP_001307873.1:p.Gly402Val, NP_001307874.1:p.Gly299Val

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