SNP Links for Protein (Select 11034845) - SNP

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Links from Protein

Items: 1 to 20 of 232

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Select item 14828356751.

rs1482835675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:38057566 (GRCh38)
20:36685968 (GRCh37)
Canonical SPDI:: NC_000020.11:38057565:T:G
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38057566T>G, NC_000020.10:g.36685968T>G, NM_021215.4:c.450T>G, NM_021215.3:c.450T>G, XM_047440347.1:c.51T>G, XM_047440346.1:c.126T>G, NP_067038.1:p.Phe150Leu, XP_047296303.1:p.Phe17Leu, XP_047296302.1:p.Phe42Leu

Select item 14813114682.

rs1481311468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38066232 (GRCh38)
20:36694634 (GRCh37)
Canonical SPDI:: NC_000020.11:38066231:G:A
Gene:: RPRD1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.38066232G>A, NC_000020.10:g.36694634G>A, NM_021215.4:c.807G>A, NM_021215.3:c.807G>A, XM_047440347.1:c.408G>A, XM_047440346.1:c.483G>A

Select item 14812121233.

rs1481212123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:38040562 (GRCh38)
20:36668964 (GRCh37)
Canonical SPDI:: NC_000020.11:38040561:C:G
Gene:: RPRD1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.38040562C>G, NC_000020.10:g.36668964C>G, NM_021215.4:c.279C>G, NM_021215.3:c.279C>G, XM_047440346.1:c.89C>G, XP_047296302.1:p.Pro30Arg

Select item 14795482144.

rs1479548214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38089762 (GRCh38)
20:36718164 (GRCh37)
Canonical SPDI:: NC_000020.11:38089761:C:T
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.38089762C>T, NC_000020.10:g.36718164C>T, NM_021215.4:c.868C>T, NM_021215.3:c.868C>T, XM_047440347.1:c.469C>T, XM_047440346.1:c.544C>T, NP_067038.1:p.Arg290Cys, XP_047296303.1:p.Arg157Cys, XP_047296302.1:p.Arg182Cys

Select item 14658795705.

rs1465879570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:38057609 (GRCh38)
20:36686011 (GRCh37)
Canonical SPDI:: NC_000020.11:38057608:T:C
Gene:: RPRD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38057609T>C, NC_000020.10:g.36686011T>C, NM_021215.4:c.493T>C, NM_021215.3:c.493T>C, XM_047440347.1:c.94T>C, XM_047440346.1:c.169T>C, NP_067038.1:p.Tyr165His, XP_047296303.1:p.Tyr32His, XP_047296302.1:p.Tyr57His

Select item 14560413686.

rs1456041368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38059441 (GRCh38)
20:36687843 (GRCh37)
Canonical SPDI:: NC_000020.11:38059440:A:G
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38059441A>G, NC_000020.10:g.36687843A>G, NM_021215.4:c.576A>G, NM_021215.3:c.576A>G, XM_047440347.1:c.177A>G, XM_047440346.1:c.252A>G

Select item 14545736457.

rs1454573645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38066084 (GRCh38)
20:36694486 (GRCh37)
Canonical SPDI:: NC_000020.11:38066083:A:G
Gene:: RPRD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38066084A>G, NC_000020.10:g.36694486A>G, NM_021215.4:c.659A>G, NM_021215.3:c.659A>G, XM_047440347.1:c.260A>G, XM_047440346.1:c.335A>G, NP_067038.1:p.Lys220Arg, XP_047296303.1:p.Lys87Arg, XP_047296302.1:p.Lys112Arg

Select item 14472173848.

rs1447217384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:38066214 (GRCh38)
20:36694616 (GRCh37)
Canonical SPDI:: NC_000020.11:38066213:G:A,NC_000020.11:38066213:G:T
Gene:: RPRD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38066214G>A, NC_000020.11:g.38066214G>T, NC_000020.10:g.36694616G>A, NC_000020.10:g.36694616G>T, NM_021215.4:c.789G>A, NM_021215.4:c.789G>T, NM_021215.3:c.789G>A, NM_021215.3:c.789G>T, XM_047440347.1:c.390G>A, XM_047440347.1:c.390G>T, XM_047440346.1:c.465G>A, XM_047440346.1:c.465G>T, NP_067038.1:p.Gln263His, XP_047296303.1:p.Gln130His, XP_047296302.1:p.Gln155His

Select item 14466422329.

rs1446642232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:38089817 (GRCh38)
20:36718219 (GRCh37)
Canonical SPDI:: NC_000020.11:38089816:A:G,NC_000020.11:38089816:A:T
Gene:: RPRD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38089817A>G, NC_000020.11:g.38089817A>T, NC_000020.10:g.36718219A>G, NC_000020.10:g.36718219A>T, NM_021215.4:c.923A>G, NM_021215.4:c.923A>T, NM_021215.3:c.923A>G, NM_021215.3:c.923A>T, XM_047440347.1:c.524A>G, XM_047440347.1:c.524A>T, XM_047440346.1:c.599A>G, XM_047440346.1:c.599A>T, NP_067038.1:p.Asn308Ser, NP_067038.1:p.Asn308Ile, XP_047296303.1:p.Asn175Ser, XP_047296303.1:p.Asn175Ile, XP_047296302.1:p.Asn200Ser, XP_047296302.1:p.Asn200Ile

Select item 144645304610.

rs1446453046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:38057588 (GRCh38)
20:36685990 (GRCh37)
Canonical SPDI:: NC_000020.11:38057587:G:A,NC_000020.11:38057587:G:C
Gene:: RPRD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38057588G>A, NC_000020.11:g.38057588G>C, NC_000020.10:g.36685990G>A, NC_000020.10:g.36685990G>C, NM_021215.4:c.472G>A, NM_021215.4:c.472G>C, NM_021215.3:c.472G>A, NM_021215.3:c.472G>C, XM_047440347.1:c.73G>A, XM_047440347.1:c.73G>C, XM_047440346.1:c.148G>A, XM_047440346.1:c.148G>C, NP_067038.1:p.Asp158Asn, NP_067038.1:p.Asp158His, XP_047296303.1:p.Asp25Asn, XP_047296303.1:p.Asp25His, XP_047296302.1:p.Asp50Asn, XP_047296302.1:p.Asp50His

Select item 144176311311.

rs1441763113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:38066208 (GRCh38)
20:36694610 (GRCh37)
Canonical SPDI:: NC_000020.11:38066207:T:C
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.38066208T>C, NC_000020.10:g.36694610T>C, NM_021215.4:c.783T>C, NM_021215.3:c.783T>C, XM_047440347.1:c.384T>C, XM_047440346.1:c.459T>C

Select item 143841121712.

rs1438411217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:38089792 (GRCh38)
20:36718194 (GRCh37)
Canonical SPDI:: NC_000020.11:38089791:T:C
Gene:: RPRD1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38089792T>C, NC_000020.10:g.36718194T>C, NM_021215.4:c.898T>C, NM_021215.3:c.898T>C, XM_047440347.1:c.499T>C, XM_047440346.1:c.574T>C

Select item 143533363313.

rs1435333633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38048423 (GRCh38)
20:36676825 (GRCh37)
Canonical SPDI:: NC_000020.11:38048422:C:T
Gene:: RPRD1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38048423C>T, NC_000020.10:g.36676825C>T, NM_021215.4:c.357C>T, NM_021215.3:c.357C>T, XM_047440347.1:c.-180C>T

Select item 142702636014.

rs1427026360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:38066140 (GRCh38)
20:36694542 (GRCh37)
Canonical SPDI:: NC_000020.11:38066139:G:C
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38066140G>C, NC_000020.10:g.36694542G>C, NM_021215.4:c.715G>C, NM_021215.3:c.715G>C, XM_047440347.1:c.316G>C, XM_047440346.1:c.391G>C, NP_067038.1:p.Glu239Gln, XP_047296303.1:p.Glu106Gln, XP_047296302.1:p.Glu131Gln

Select item 141041296715.

rs1410412967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38059421 (GRCh38)
20:36687823 (GRCh37)
Canonical SPDI:: NC_000020.11:38059420:G:A
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.38059421G>A, NC_000020.10:g.36687823G>A, NM_021215.4:c.556G>A, NM_021215.3:c.556G>A, XM_047440347.1:c.157G>A, XM_047440346.1:c.232G>A, NP_067038.1:p.Asp186Asn, XP_047296303.1:p.Asp53Asn, XP_047296302.1:p.Asp78Asn

Select item 140899403716.

rs1408994037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:38059457 (GRCh38)
20:36687859 (GRCh37)
Canonical SPDI:: NC_000020.11:38059456:C:A
Gene:: RPRD1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38059457C>A, NC_000020.10:g.36687859C>A, NM_021215.4:c.592C>A, NM_021215.3:c.592C>A, XM_047440347.1:c.193C>A, XM_047440346.1:c.268C>A

Select item 140895531217.

rs1408955312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:38057613 (GRCh38)
20:36686015 (GRCh37)
Canonical SPDI:: NC_000020.11:38057612:C:G
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38057613C>G, NC_000020.10:g.36686015C>G, NM_021215.4:c.497C>G, NM_021215.3:c.497C>G, XM_047440347.1:c.98C>G, XM_047440346.1:c.173C>G, NP_067038.1:p.Ser166Cys, XP_047296303.1:p.Ser33Cys, XP_047296302.1:p.Ser58Cys

Select item 140880348818.

rs1408803488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38040555 (GRCh38)
20:36668957 (GRCh37)
Canonical SPDI:: NC_000020.11:38040554:A:G
Gene:: RPRD1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.38040555A>G, NC_000020.10:g.36668957A>G, NM_021215.4:c.272A>G, NM_021215.3:c.272A>G, XM_047440346.1:c.82A>G, NP_067038.1:p.His91Arg, XP_047296302.1:p.Met28Val

Select item 140188448819.

rs1401884488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:38066126 (GRCh38)
20:36694528 (GRCh37)
Canonical SPDI:: NC_000020.11:38066125:G:T
Gene:: RPRD1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38066126G>T, NC_000020.10:g.36694528G>T, NM_021215.4:c.701G>T, NM_021215.3:c.701G>T, XM_047440347.1:c.302G>T, XM_047440346.1:c.377G>T, NP_067038.1:p.Cys234Phe, XP_047296303.1:p.Cys101Phe, XP_047296302.1:p.Cys126Phe

Select item 139977076420.

rs1399770764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38048454 (GRCh38)
20:36676856 (GRCh37)
Canonical SPDI:: NC_000020.11:38048453:G:A
Gene:: RPRD1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38048454G>A, NC_000020.10:g.36676856G>A, NM_021215.4:c.388G>A, NM_021215.3:c.388G>A, XM_047440347.1:c.-149G>A, NP_067038.1:p.Glu130Lys