SNP Links for Protein (Select 564730504) - SNP

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Links from Protein

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Select item 14905213401.

rs1490521340 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 8:70734007 (GRCh38)
8:71646242 (GRCh37)
Canonical SPDI:: NC_000008.11:70734002:TGTTGTT:TGTT
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTT=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.70734004GTT[1], NC_000008.10:g.71646239GTT[1], XM_011517524.4:c.702GTT[1], XM_011517524.3:c.702GTT[1], XM_011517524.2:c.702GTT[1], XM_011517524.1:c.702GTT[1], XM_011517525.3:c.702GTT[1], XM_011517525.2:c.702GTT[1], XM_011517525.1:c.702GTT[1], XM_017013404.3:c.702GTT[1], XM_017013404.2:c.702GTT[1], XM_017013404.1:c.702GTT[1], NM_001287258.2:c.306GTT[1], NM_001287258.1:c.306GTT[1], NM_001287259.2:c.702GTT[1], NM_001287259.1:c.702GTT[1], NM_001011720.2:c.702GTT[1], NM_001011720.1:c.702GTT[1], NM_001287260.2:c.702GTT[1], NM_001287260.1:c.702GTT[1], XP_011515826.1:p.Leu236del, XP_011515827.1:p.Leu236del, XP_016868893.1:p.Leu236del, NP_001274187.1:p.Leu104del, NP_001274188.1:p.Leu236del, NP_001011720.1:p.Leu236del, NP_001274189.1:p.Leu236del

Select item 14856078252.

rs1485607825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:70733810 (GRCh38)
8:71646045 (GRCh37)
Canonical SPDI:: NC_000008.11:70733809:G:T
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.70733810G>T, NC_000008.10:g.71646045G>T, XM_011517524.4:c.508G>T, XM_011517524.3:c.508G>T, XM_011517524.2:c.508G>T, XM_011517524.1:c.508G>T, XM_011517525.3:c.508G>T, XM_011517525.2:c.508G>T, XM_011517525.1:c.508G>T, XM_017013404.3:c.508G>T, XM_017013404.2:c.508G>T, XM_017013404.1:c.508G>T, NM_001287258.2:c.112G>T, NM_001287258.1:c.112G>T, NM_001287259.2:c.508G>T, NM_001287259.1:c.508G>T, NM_001011720.2:c.508G>T, NM_001011720.1:c.508G>T, NM_001287260.2:c.508G>T, NM_001287260.1:c.508G>T, XP_011515826.1:p.Val170Phe, XP_011515827.1:p.Val170Phe, XP_016868893.1:p.Val170Phe, NP_001274187.1:p.Val38Phe, NP_001274188.1:p.Val170Phe, NP_001011720.1:p.Val170Phe, NP_001274189.1:p.Val170Phe

Select item 14788230593.

rs1478823059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:70734153 (GRCh38)
8:71646388 (GRCh37)
Canonical SPDI:: NC_000008.11:70734152:A:G
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.70734153A>G, NC_000008.10:g.71646388A>G, XM_011517524.4:c.851A>G, XM_011517524.3:c.851A>G, XM_011517524.2:c.851A>G, XM_011517524.1:c.851A>G, XM_011517525.3:c.851A>G, XM_011517525.2:c.851A>G, XM_011517525.1:c.851A>G, XM_017013404.3:c.851A>G, XM_017013404.2:c.851A>G, XM_017013404.1:c.851A>G, NM_001287258.2:c.455A>G, NM_001287258.1:c.455A>G, NM_001287259.2:c.851A>G, NM_001287259.1:c.851A>G, NM_001011720.2:c.851A>G, NM_001011720.1:c.851A>G, NM_001287260.2:c.851A>G, NM_001287260.1:c.851A>G, XP_011515826.1:p.Lys284Arg, XP_011515827.1:p.Lys284Arg, XP_016868893.1:p.Lys284Arg, NP_001274187.1:p.Lys152Arg, NP_001274188.1:p.Lys284Arg, NP_001011720.1:p.Lys284Arg, NP_001274189.1:p.Lys284Arg

Select item 14751869364.

rs1475186936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70734265 (GRCh38)
8:71646500 (GRCh37)
Canonical SPDI:: NC_000008.11:70734264:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.70734265C>T, NC_000008.10:g.71646500C>T, XM_011517524.4:c.963C>T, XM_011517524.3:c.963C>T, XM_011517524.2:c.963C>T, XM_011517524.1:c.963C>T, XM_011517525.3:c.963C>T, XM_011517525.2:c.963C>T, XM_011517525.1:c.963C>T, XM_017013404.3:c.963C>T, XM_017013404.2:c.963C>T, XM_017013404.1:c.963C>T, NM_001287258.2:c.567C>T, NM_001287258.1:c.567C>T, NM_001287259.2:c.963C>T, NM_001287259.1:c.963C>T, NM_001011720.2:c.963C>T, NM_001011720.1:c.963C>T, NM_001287260.2:c.963C>T, NM_001287260.1:c.963C>T

Select item 14732023535.

rs1473202353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:70734340 (GRCh38)
8:71646575 (GRCh37)
Canonical SPDI:: NC_000008.11:70734339:C:G
Gene:: XKR9 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.70734340C>G, NC_000008.10:g.71646575C>G, XM_011517524.4:c.1038C>G, XM_011517524.3:c.1038C>G, XM_011517524.2:c.1038C>G, XM_011517524.1:c.1038C>G, XM_011517525.3:c.1038C>G, XM_011517525.2:c.1038C>G, XM_011517525.1:c.1038C>G, XM_017013404.3:c.1038C>G, XM_017013404.2:c.1038C>G, XM_017013404.1:c.1038C>G, NM_001287258.2:c.642C>G, NM_001287258.1:c.642C>G, NM_001287259.2:c.1038C>G, NM_001287259.1:c.1038C>G, NM_001011720.2:c.1038C>G, NM_001011720.1:c.1038C>G, NM_001287260.2:c.1038C>G, NM_001287260.1:c.1038C>G, XP_011515826.1:p.Asn346Lys, XP_011515827.1:p.Asn346Lys, XP_016868893.1:p.Asn346Lys, NP_001274187.1:p.Asn214Lys, NP_001274188.1:p.Asn346Lys, NP_001011720.1:p.Asn346Lys, NP_001274189.1:p.Asn346Lys

Select item 14650391246.

rs1465039124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:70733917 (GRCh38)
8:71646152 (GRCh37)
Canonical SPDI:: NC_000008.11:70733916:T:C
Gene:: XKR9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000283/5 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.70733917T>C, NC_000008.10:g.71646152T>C, XM_011517524.4:c.615T>C, XM_011517524.3:c.615T>C, XM_011517524.2:c.615T>C, XM_011517524.1:c.615T>C, XM_011517525.3:c.615T>C, XM_011517525.2:c.615T>C, XM_011517525.1:c.615T>C, XM_017013404.3:c.615T>C, XM_017013404.2:c.615T>C, XM_017013404.1:c.615T>C, NM_001287258.2:c.219T>C, NM_001287258.1:c.219T>C, NM_001287259.2:c.615T>C, NM_001287259.1:c.615T>C, NM_001011720.2:c.615T>C, NM_001011720.1:c.615T>C, NM_001287260.2:c.615T>C, NM_001287260.1:c.615T>C

Select item 14595849187.

rs1459584918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:70734240 (GRCh38)
8:71646475 (GRCh37)
Canonical SPDI:: NC_000008.11:70734239:T:C
Gene:: XKR9 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.70734240T>C, NC_000008.10:g.71646475T>C, XM_011517524.4:c.938T>C, XM_011517524.3:c.938T>C, XM_011517524.2:c.938T>C, XM_011517524.1:c.938T>C, XM_011517525.3:c.938T>C, XM_011517525.2:c.938T>C, XM_011517525.1:c.938T>C, XM_017013404.3:c.938T>C, XM_017013404.2:c.938T>C, XM_017013404.1:c.938T>C, NM_001287258.2:c.542T>C, NM_001287258.1:c.542T>C, NM_001287259.2:c.938T>C, NM_001287259.1:c.938T>C, NM_001011720.2:c.938T>C, NM_001011720.1:c.938T>C, NM_001287260.2:c.938T>C, NM_001287260.1:c.938T>C, XP_011515826.1:p.Phe313Ser, XP_011515827.1:p.Phe313Ser, XP_016868893.1:p.Phe313Ser, NP_001274187.1:p.Phe181Ser, NP_001274188.1:p.Phe313Ser, NP_001011720.1:p.Phe313Ser, NP_001274189.1:p.Phe313Ser

Select item 14586108398.

rs1458610839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70734002 (GRCh38)
8:71646237 (GRCh37)
Canonical SPDI:: NC_000008.11:70734001:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.70734002C>T, NC_000008.10:g.71646237C>T, XM_011517524.4:c.700C>T, XM_011517524.3:c.700C>T, XM_011517524.2:c.700C>T, XM_011517524.1:c.700C>T, XM_011517525.3:c.700C>T, XM_011517525.2:c.700C>T, XM_011517525.1:c.700C>T, XM_017013404.3:c.700C>T, XM_017013404.2:c.700C>T, XM_017013404.1:c.700C>T, NM_001287258.2:c.304C>T, NM_001287258.1:c.304C>T, NM_001287259.2:c.700C>T, NM_001287259.1:c.700C>T, NM_001011720.2:c.700C>T, NM_001011720.1:c.700C>T, NM_001287260.2:c.700C>T, NM_001287260.1:c.700C>T

Select item 14563297799.

rs1456329779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:70734186 (GRCh38)
8:71646421 (GRCh37)
Canonical SPDI:: NC_000008.11:70734185:T:A
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70734186T>A, NC_000008.10:g.71646421T>A, XM_011517524.4:c.884T>A, XM_011517524.3:c.884T>A, XM_011517524.2:c.884T>A, XM_011517524.1:c.884T>A, XM_011517525.3:c.884T>A, XM_011517525.2:c.884T>A, XM_011517525.1:c.884T>A, XM_017013404.3:c.884T>A, XM_017013404.2:c.884T>A, XM_017013404.1:c.884T>A, NM_001287258.2:c.488T>A, NM_001287258.1:c.488T>A, NM_001287259.2:c.884T>A, NM_001287259.1:c.884T>A, NM_001011720.2:c.884T>A, NM_001011720.1:c.884T>A, NM_001287260.2:c.884T>A, NM_001287260.1:c.884T>A, XP_011515826.1:p.Val295Glu, XP_011515827.1:p.Val295Glu, XP_016868893.1:p.Val295Glu, NP_001274187.1:p.Val163Glu, NP_001274188.1:p.Val295Glu, NP_001011720.1:p.Val295Glu, NP_001274189.1:p.Val295Glu

Select item 145061293110.

rs1450612931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:70734135 (GRCh38)
8:71646370 (GRCh37)
Canonical SPDI:: NC_000008.11:70734134:T:C
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70734135T>C, NC_000008.10:g.71646370T>C, XM_011517524.4:c.833T>C, XM_011517524.3:c.833T>C, XM_011517524.2:c.833T>C, XM_011517524.1:c.833T>C, XM_011517525.3:c.833T>C, XM_011517525.2:c.833T>C, XM_011517525.1:c.833T>C, XM_017013404.3:c.833T>C, XM_017013404.2:c.833T>C, XM_017013404.1:c.833T>C, NM_001287258.2:c.437T>C, NM_001287258.1:c.437T>C, NM_001287259.2:c.833T>C, NM_001287259.1:c.833T>C, NM_001011720.2:c.833T>C, NM_001011720.1:c.833T>C, NM_001287260.2:c.833T>C, NM_001287260.1:c.833T>C, XP_011515826.1:p.Ile278Thr, XP_011515827.1:p.Ile278Thr, XP_016868893.1:p.Ile278Thr, NP_001274187.1:p.Ile146Thr, NP_001274188.1:p.Ile278Thr, NP_001011720.1:p.Ile278Thr, NP_001274189.1:p.Ile278Thr

Select item 144963429211.

rs1449634292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70734308 (GRCh38)
8:71646543 (GRCh37)
Canonical SPDI:: NC_000008.11:70734307:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.70734308C>T, NC_000008.10:g.71646543C>T, XM_011517524.4:c.1006C>T, XM_011517524.3:c.1006C>T, XM_011517524.2:c.1006C>T, XM_011517524.1:c.1006C>T, XM_011517525.3:c.1006C>T, XM_011517525.2:c.1006C>T, XM_011517525.1:c.1006C>T, XM_017013404.3:c.1006C>T, XM_017013404.2:c.1006C>T, XM_017013404.1:c.1006C>T, NM_001287258.2:c.610C>T, NM_001287258.1:c.610C>T, NM_001287259.2:c.1006C>T, NM_001287259.1:c.1006C>T, NM_001011720.2:c.1006C>T, NM_001011720.1:c.1006C>T, NM_001287260.2:c.1006C>T, NM_001287260.1:c.1006C>T, XP_011515826.1:p.Leu336Phe, XP_011515827.1:p.Leu336Phe, XP_016868893.1:p.Leu336Phe, NP_001274187.1:p.Leu204Phe, NP_001274188.1:p.Leu336Phe, NP_001011720.1:p.Leu336Phe, NP_001274189.1:p.Leu336Phe

Select item 144220245212.

rs1442202452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:70734334 (GRCh38)
8:71646569 (GRCh37)
Canonical SPDI:: NC_000008.11:70734333:C:A,NC_000008.11:70734333:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.70734334C>A, NC_000008.11:g.70734334C>T, NC_000008.10:g.71646569C>A, NC_000008.10:g.71646569C>T, XM_011517524.4:c.1032C>A, XM_011517524.4:c.1032C>T, XM_011517524.3:c.1032C>A, XM_011517524.3:c.1032C>T, XM_011517524.2:c.1032C>A, XM_011517524.2:c.1032C>T, XM_011517524.1:c.1032C>A, XM_011517524.1:c.1032C>T, XM_011517525.3:c.1032C>A, XM_011517525.3:c.1032C>T, XM_011517525.2:c.1032C>A, XM_011517525.2:c.1032C>T, XM_011517525.1:c.1032C>A, XM_011517525.1:c.1032C>T, XM_017013404.3:c.1032C>A, XM_017013404.3:c.1032C>T, XM_017013404.2:c.1032C>A, XM_017013404.2:c.1032C>T, XM_017013404.1:c.1032C>A, XM_017013404.1:c.1032C>T, NM_001287258.2:c.636C>A, NM_001287258.2:c.636C>T, NM_001287258.1:c.636C>A, NM_001287258.1:c.636C>T, NM_001287259.2:c.1032C>A, NM_001287259.2:c.1032C>T, NM_001287259.1:c.1032C>A, NM_001287259.1:c.1032C>T, NM_001011720.2:c.1032C>A, NM_001011720.2:c.1032C>T, NM_001011720.1:c.1032C>A, NM_001011720.1:c.1032C>T, NM_001287260.2:c.1032C>A, NM_001287260.2:c.1032C>T, NM_001287260.1:c.1032C>A, NM_001287260.1:c.1032C>T, XP_011515826.1:p.His344Gln, XP_011515827.1:p.His344Gln, XP_016868893.1:p.His344Gln, NP_001274187.1:p.His212Gln, NP_001274188.1:p.His344Gln, NP_001011720.1:p.His344Gln, NP_001274189.1:p.His344Gln

Select item 143806181713.

rs1438061817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:70734191 (GRCh38)
8:71646426 (GRCh37)
Canonical SPDI:: NC_000008.11:70734190:G:T
Gene:: XKR9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70734191G>T, NC_000008.10:g.71646426G>T, XM_011517524.4:c.889G>T, XM_011517524.3:c.889G>T, XM_011517524.2:c.889G>T, XM_011517524.1:c.889G>T, XM_011517525.3:c.889G>T, XM_011517525.2:c.889G>T, XM_011517525.1:c.889G>T, XM_017013404.3:c.889G>T, XM_017013404.2:c.889G>T, XM_017013404.1:c.889G>T, NM_001287258.2:c.493G>T, NM_001287258.1:c.493G>T, NM_001287259.2:c.889G>T, NM_001287259.1:c.889G>T, NM_001011720.2:c.889G>T, NM_001011720.1:c.889G>T, NM_001287260.2:c.889G>T, NM_001287260.1:c.889G>T, XP_011515826.1:p.Gly297Cys, XP_011515827.1:p.Gly297Cys, XP_016868893.1:p.Gly297Cys, NP_001274187.1:p.Gly165Cys, NP_001274188.1:p.Gly297Cys, NP_001011720.1:p.Gly297Cys, NP_001274189.1:p.Gly297Cys

Select item 143581975114.

rs1435819751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70734037 (GRCh38)
8:71646272 (GRCh37)
Canonical SPDI:: NC_000008.11:70734036:G:A
Gene:: XKR9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.70734037G>A, NC_000008.10:g.71646272G>A, XM_011517524.4:c.735G>A, XM_011517524.3:c.735G>A, XM_011517524.2:c.735G>A, XM_011517524.1:c.735G>A, XM_011517525.3:c.735G>A, XM_011517525.2:c.735G>A, XM_011517525.1:c.735G>A, XM_017013404.3:c.735G>A, XM_017013404.2:c.735G>A, XM_017013404.1:c.735G>A, NM_001287258.2:c.339G>A, NM_001287258.1:c.339G>A, NM_001287259.2:c.735G>A, NM_001287259.1:c.735G>A, NM_001011720.2:c.735G>A, NM_001011720.1:c.735G>A, NM_001287260.2:c.735G>A, NM_001287260.1:c.735G>A, XP_011515826.1:p.Trp245Ter, XP_011515827.1:p.Trp245Ter, XP_016868893.1:p.Trp245Ter, NP_001274187.1:p.Trp113Ter, NP_001274188.1:p.Trp245Ter, NP_001011720.1:p.Trp245Ter, NP_001274189.1:p.Trp245Ter

Select item 143530519515.

rs1435305195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70734158 (GRCh38)
8:71646393 (GRCh37)
Canonical SPDI:: NC_000008.11:70734157:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.70734158C>T, NC_000008.10:g.71646393C>T, XM_011517524.4:c.856C>T, XM_011517524.3:c.856C>T, XM_011517524.2:c.856C>T, XM_011517524.1:c.856C>T, XM_011517525.3:c.856C>T, XM_011517525.2:c.856C>T, XM_011517525.1:c.856C>T, XM_017013404.3:c.856C>T, XM_017013404.2:c.856C>T, XM_017013404.1:c.856C>T, NM_001287258.2:c.460C>T, NM_001287258.1:c.460C>T, NM_001287259.2:c.856C>T, NM_001287259.1:c.856C>T, NM_001011720.2:c.856C>T, NM_001011720.1:c.856C>T, NM_001287260.2:c.856C>T, NM_001287260.1:c.856C>T, XP_011515826.1:p.Pro286Ser, XP_011515827.1:p.Pro286Ser, XP_016868893.1:p.Pro286Ser, NP_001274187.1:p.Pro154Ser, NP_001274188.1:p.Pro286Ser, NP_001011720.1:p.Pro286Ser, NP_001274189.1:p.Pro286Ser

Select item 143397497816.

rs1433974978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:70733868 (GRCh38)
8:71646103 (GRCh37)
Canonical SPDI:: NC_000008.11:70733867:C:A,NC_000008.11:70733867:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.70733868C>A, NC_000008.11:g.70733868C>T, NC_000008.10:g.71646103C>A, NC_000008.10:g.71646103C>T, XM_011517524.4:c.566C>A, XM_011517524.4:c.566C>T, XM_011517524.3:c.566C>A, XM_011517524.3:c.566C>T, XM_011517524.2:c.566C>A, XM_011517524.2:c.566C>T, XM_011517524.1:c.566C>A, XM_011517524.1:c.566C>T, XM_011517525.3:c.566C>A, XM_011517525.3:c.566C>T, XM_011517525.2:c.566C>A, XM_011517525.2:c.566C>T, XM_011517525.1:c.566C>A, XM_011517525.1:c.566C>T, XM_017013404.3:c.566C>A, XM_017013404.3:c.566C>T, XM_017013404.2:c.566C>A, XM_017013404.2:c.566C>T, XM_017013404.1:c.566C>A, XM_017013404.1:c.566C>T, NM_001287258.2:c.170C>A, NM_001287258.2:c.170C>T, NM_001287258.1:c.170C>A, NM_001287258.1:c.170C>T, NM_001287259.2:c.566C>A, NM_001287259.2:c.566C>T, NM_001287259.1:c.566C>A, NM_001287259.1:c.566C>T, NM_001011720.2:c.566C>A, NM_001011720.2:c.566C>T, NM_001011720.1:c.566C>A, NM_001011720.1:c.566C>T, NM_001287260.2:c.566C>A, NM_001287260.2:c.566C>T, NM_001287260.1:c.566C>A, NM_001287260.1:c.566C>T, XP_011515826.1:p.Ser189Tyr, XP_011515826.1:p.Ser189Phe, XP_011515827.1:p.Ser189Tyr, XP_011515827.1:p.Ser189Phe, XP_016868893.1:p.Ser189Tyr, XP_016868893.1:p.Ser189Phe, NP_001274187.1:p.Ser57Tyr, NP_001274187.1:p.Ser57Phe, NP_001274188.1:p.Ser189Tyr, NP_001274188.1:p.Ser189Phe, NP_001011720.1:p.Ser189Tyr, NP_001011720.1:p.Ser189Phe, NP_001274189.1:p.Ser189Tyr, NP_001274189.1:p.Ser189Phe

Select item 143394840417.

rs1433948404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70734145 (GRCh38)
8:71646380 (GRCh37)
Canonical SPDI:: NC_000008.11:70734144:G:A
Gene:: XKR9 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.70734145G>A, NC_000008.10:g.71646380G>A, XM_011517524.4:c.843G>A, XM_011517524.3:c.843G>A, XM_011517524.2:c.843G>A, XM_011517524.1:c.843G>A, XM_011517525.3:c.843G>A, XM_011517525.2:c.843G>A, XM_011517525.1:c.843G>A, XM_017013404.3:c.843G>A, XM_017013404.2:c.843G>A, XM_017013404.1:c.843G>A, NM_001287258.2:c.447G>A, NM_001287258.1:c.447G>A, NM_001287259.2:c.843G>A, NM_001287259.1:c.843G>A, NM_001011720.2:c.843G>A, NM_001011720.1:c.843G>A, NM_001287260.2:c.843G>A, NM_001287260.1:c.843G>A

Select item 143193209818.

rs1431932098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:70707083 (GRCh38)
8:71619318 (GRCh37)
Canonical SPDI:: NC_000008.11:70707082:G:A
Gene:: XKR9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.70707083G>A, NC_000008.10:g.71619318G>A, XM_011517524.4:c.423G>A, XM_011517524.3:c.423G>A, XM_011517524.2:c.423G>A, XM_011517524.1:c.423G>A, XM_011517527.4:c.423G>A, XM_011517527.3:c.423G>A, XM_011517527.2:c.423G>A, XM_011517527.1:c.423G>A, XM_011517526.4:c.423G>A, XM_011517526.3:c.423G>A, XM_011517526.2:c.423G>A, XM_011517526.1:c.423G>A, XM_011517525.3:c.423G>A, XM_011517525.2:c.423G>A, XM_011517525.1:c.423G>A, XM_017013404.3:c.423G>A, XM_017013404.2:c.423G>A, XM_017013404.1:c.423G>A, XM_017013405.3:c.423G>A, XM_017013405.2:c.423G>A, XM_017013405.1:c.423G>A, NM_001287258.2:c.27G>A, NM_001287258.1:c.27G>A, NM_001287259.2:c.423G>A, NM_001287259.1:c.423G>A, NM_001011720.2:c.423G>A, NM_001011720.1:c.423G>A, NM_001287260.2:c.423G>A, NM_001287260.1:c.423G>A

Select item 142749475119.

rs1427494751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:70733823 (GRCh38)
8:71646058 (GRCh37)
Canonical SPDI:: NC_000008.11:70733822:C:A,NC_000008.11:70733822:C:G
Gene:: XKR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.70733823C>A, NC_000008.11:g.70733823C>G, NC_000008.10:g.71646058C>A, NC_000008.10:g.71646058C>G, XM_011517524.4:c.521C>A, XM_011517524.4:c.521C>G, XM_011517524.3:c.521C>A, XM_011517524.3:c.521C>G, XM_011517524.2:c.521C>A, XM_011517524.2:c.521C>G, XM_011517524.1:c.521C>A, XM_011517524.1:c.521C>G, XM_011517525.3:c.521C>A, XM_011517525.3:c.521C>G, XM_011517525.2:c.521C>A, XM_011517525.2:c.521C>G, XM_011517525.1:c.521C>A, XM_011517525.1:c.521C>G, XM_017013404.3:c.521C>A, XM_017013404.3:c.521C>G, XM_017013404.2:c.521C>A, XM_017013404.2:c.521C>G, XM_017013404.1:c.521C>A, XM_017013404.1:c.521C>G, NM_001287258.2:c.125C>A, NM_001287258.2:c.125C>G, NM_001287258.1:c.125C>A, NM_001287258.1:c.125C>G, NM_001287259.2:c.521C>A, NM_001287259.2:c.521C>G, NM_001287259.1:c.521C>A, NM_001287259.1:c.521C>G, NM_001011720.2:c.521C>A, NM_001011720.2:c.521C>G, NM_001011720.1:c.521C>A, NM_001011720.1:c.521C>G, NM_001287260.2:c.521C>A, NM_001287260.2:c.521C>G, NM_001287260.1:c.521C>A, NM_001287260.1:c.521C>G, XP_011515826.1:p.Ala174Asp, XP_011515826.1:p.Ala174Gly, XP_011515827.1:p.Ala174Asp, XP_011515827.1:p.Ala174Gly, XP_016868893.1:p.Ala174Asp, XP_016868893.1:p.Ala174Gly, NP_001274187.1:p.Ala42Asp, NP_001274187.1:p.Ala42Gly, NP_001274188.1:p.Ala174Asp, NP_001274188.1:p.Ala174Gly, NP_001011720.1:p.Ala174Asp, NP_001011720.1:p.Ala174Gly, NP_001274189.1:p.Ala174Asp, NP_001274189.1:p.Ala174Gly

Select item 142493210720.

rs1424932107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:70707108 (GRCh38)
8:71619343 (GRCh37)
Canonical SPDI:: NC_000008.11:70707107:C:T
Gene:: XKR9 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.70707108C>T, NC_000008.10:g.71619343C>T, XM_011517524.4:c.448C>T, XM_011517524.3:c.448C>T, XM_011517524.2:c.448C>T, XM_011517524.1:c.448C>T, XM_011517527.4:c.448C>T, XM_011517527.3:c.448C>T, XM_011517527.2:c.448C>T, XM_011517527.1:c.448C>T, XM_011517526.4:c.448C>T, XM_011517526.3:c.448C>T, XM_011517526.2:c.448C>T, XM_011517526.1:c.448C>T, XM_011517525.3:c.448C>T, XM_011517525.2:c.448C>T, XM_011517525.1:c.448C>T, XM_017013404.3:c.448C>T, XM_017013404.2:c.448C>T, XM_017013404.1:c.448C>T, XM_017013405.3:c.448C>T, XM_017013405.2:c.448C>T, XM_017013405.1:c.448C>T, NM_001287258.2:c.52C>T, NM_001287258.1:c.52C>T, NM_001287259.2:c.448C>T, NM_001287259.1:c.448C>T, NM_001011720.2:c.448C>T, NM_001011720.1:c.448C>T, NM_001287260.2:c.448C>T, NM_001287260.1:c.448C>T, XP_011515826.1:p.Gln150Ter, XP_011515829.1:p.Gln150Ter, XP_011515828.1:p.Gln150Ter, XP_011515827.1:p.Gln150Ter, XP_016868893.1:p.Gln150Ter, XP_016868894.1:p.Gln150Ter, NP_001274187.1:p.Gln18Ter, NP_001274188.1:p.Gln150Ter, NP_001011720.1:p.Gln150Ter, NP_001274189.1:p.Gln150Ter

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