SNP Links for Protein (Select 1004170692) - SNP

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 14755646642.

rs1475564664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:21540769 (GRCh38)
Y:23702655 (GRCh37)
Canonical SPDI:: NC_000024.10:21540768:C:T
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.21540769C>T, NC_000024.9:g.23702655C>T, NG_004832.1:g.230109C>T, NG_012805.1:g.10857C>T, NM_005058.4:c.385C>T, NM_005058.3:c.385C>T, NM_005058.2:c.385C>T, NM_001320944.2:c.385C>T, NM_001320944.1:c.385C>T, XM_011531437.3:c.385C>T, XM_011531437.2:c.385C>T, XM_011531437.1:c.385C>T, NP_005049.1:p.His129Tyr, NP_001307873.1:p.His129Tyr, XP_011529739.1:p.His129Tyr

Select item 14327766853.

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 13114599254.

rs1311459925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:21540613 (GRCh38)
Y:23702499 (GRCh37)
Canonical SPDI:: NC_000024.10:21540612:G:C
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000024.10:g.21540613G>C, NC_000024.9:g.23702499G>C, NG_004832.1:g.229953G>C, NG_012805.1:g.10701G>C, NM_005058.4:c.229G>C, NM_005058.3:c.229G>C, NM_005058.2:c.229G>C, NM_001320944.2:c.229G>C, NM_001320944.1:c.229G>C, XM_011531437.3:c.229G>C, XM_011531437.2:c.229G>C, XM_011531437.1:c.229G>C, NP_005049.1:p.Ala77Pro, NP_001307873.1:p.Ala77Pro, XP_011529739.1:p.Ala77Pro

Select item 13001727205.

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 12646921766.

rs1264692176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:21540767 (GRCh38)
Y:23702653 (GRCh37)
Canonical SPDI:: NC_000024.10:21540766:G:A
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.21540767G>A, NC_000024.9:g.23702653G>A, NG_004832.1:g.230107G>A, NG_012805.1:g.10855G>A, NM_005058.4:c.383G>A, NM_005058.3:c.383G>A, NM_005058.2:c.383G>A, NM_001320944.2:c.383G>A, NM_001320944.1:c.383G>A, XM_011531437.3:c.383G>A, XM_011531437.2:c.383G>A, XM_011531437.1:c.383G>A, NP_005049.1:p.Gly128Glu, NP_001307873.1:p.Gly128Glu, XP_011529739.1:p.Gly128Glu

Select item 12112060687.

rs1211206068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:21540647 (GRCh38)
Y:23702533 (GRCh37)
Canonical SPDI:: NC_000024.10:21540646:T:C
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0043/8 (ALFA)
HGVS:: NC_000024.10:g.21540647T>C, NC_000024.9:g.23702533T>C, NG_004832.1:g.229987T>C, NG_012805.1:g.10735T>C, NM_005058.4:c.263T>C, NM_005058.3:c.263T>C, NM_005058.2:c.263T>C, NM_001320944.2:c.263T>C, NM_001320944.1:c.263T>C, XM_011531437.3:c.263T>C, XM_011531437.2:c.263T>C, XM_011531437.1:c.263T>C, NP_005049.1:p.Phe88Ser, NP_001307873.1:p.Phe88Ser, XP_011529739.1:p.Phe88Ser

Select item 12081911588.

rs1208191158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: Y:21540759 (GRCh38)
Y:23702645 (GRCh37)
Canonical SPDI:: NC_000024.10:21540758:A:T
Gene:: RBMY1A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000024.10:g.21540759A>T, NC_000024.9:g.23702645A>T, NG_004832.1:g.230099A>T, NG_012805.1:g.10847A>T, NM_005058.4:c.375A>T, NM_005058.3:c.375A>T, NM_005058.2:c.375A>T, NM_001320944.2:c.375A>T, NM_001320944.1:c.375A>T, XM_011531437.3:c.375A>T, XM_011531437.2:c.375A>T, XM_011531437.1:c.375A>T

Select item 11991892629.

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

Select item 118553844010.

rs1185538440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:21540775 (GRCh38)
Y:23702661 (GRCh37)
Canonical SPDI:: NC_000024.10:21540774:G:A
Gene:: RBMY1A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0009/4 (ALFA)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000024.10:g.21540775G>A, NC_000024.9:g.23702661G>A, NG_004832.1:g.230115G>A, NG_012805.1:g.10863G>A, NM_005058.4:c.391G>A, NM_005058.3:c.391G>A, NM_005058.2:c.391G>A, NM_001320944.2:c.391G>A, NM_001320944.1:c.391G>A, XM_011531437.3:c.391G>A, XM_011531437.2:c.391G>A, XM_011531437.1:c.391G>A, NP_005049.1:p.Asp131Asn, NP_001307873.1:p.Asp131Asn, XP_011529739.1:p.Asp131Asn

Select item 77304563211.

rs773045632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:21540731 (GRCh38)
Y:23702617 (GRCh37)
Canonical SPDI:: NC_000024.10:21540730:G:A
Gene:: RBMY1A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (ExAC)
HGVS:: NC_000024.10:g.21540731G>A, NC_000024.9:g.23702617G>A, NG_004832.1:g.230071G>A, NG_012805.1:g.10819G>A, NM_005058.4:c.347G>A, NM_005058.3:c.347G>A, NM_005058.2:c.347G>A, NM_001320944.2:c.347G>A, NM_001320944.1:c.347G>A, XM_011531437.3:c.347G>A, XM_011531437.2:c.347G>A, XM_011531437.1:c.347G>A, NP_005049.1:p.Arg116His, NP_001307873.1:p.Arg116His, XP_011529739.1:p.Arg116His

Select item 76737977912.

rs767379779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:21540717 (GRCh38)
Y:23702603 (GRCh37)
Canonical SPDI:: NC_000024.10:21540716:T:A
Gene:: RBMY1A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.0007/1 (ExAC)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000024.10:g.21540717T>A, NC_000024.9:g.23702603T>A, NG_004832.1:g.230057T>A, NG_012805.1:g.10805T>A, NM_005058.4:c.333T>A, NM_005058.3:c.333T>A, NM_005058.2:c.333T>A, NM_001320944.2:c.333T>A, NM_001320944.1:c.333T>A, XM_011531437.3:c.333T>A, XM_011531437.2:c.333T>A, XM_011531437.1:c.333T>A

Select item 386823913.

rs3868239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:21540730 (GRCh38)
Y:23702616 (GRCh37)
Canonical SPDI:: NC_000024.10:21540729:C:A
Gene:: RBMY1A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000024.10:g.21540730C>A, NC_000024.9:g.23702616C>A, NG_004832.1:g.230070C>A, NG_012805.1:g.10818C>A, NM_005058.4:c.346C>A, NM_005058.3:c.346C>A, NM_005058.2:c.346C>A, NM_001320944.2:c.346C>A, NM_001320944.1:c.346C>A, XM_011531437.3:c.346C>A, XM_011531437.2:c.346C>A, XM_011531437.1:c.346C>A, NP_005049.1:p.Arg116Ser, NP_001307873.1:p.Arg116Ser, XP_011529739.1:p.Arg116Ser

dbSNP

Result Filters

Validation Status

Function Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 13

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity