SNP Links for Protein (Select 21314654) - SNP

Links from Protein

Items: 1 to 20 of 554

<< First< Prev

Page of 28

Next >Last >>

Select item 14907417751.

rs1490741775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:124475137 (GRCh38)
8:125487378 (GRCh37)
Canonical SPDI:: NC_000008.11:124475136:C:G,NC_000008.11:124475136:C:T
Gene:: RNF139 (Varview), RNF139-DT (Varview)
Functional Consequence:: stop_gained,missense_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124475137C>G, NC_000008.11:g.124475137C>T, NC_000008.10:g.125487378C>G, NC_000008.10:g.125487378C>T, NG_012158.1:g.5371C>G, NG_012158.1:g.5371C>T, NM_007218.4:c.28C>G, NM_007218.4:c.28C>T, NM_007218.3:c.28C>G, NM_007218.3:c.28C>T, NW_025791784.1:g.9726C>G, NW_025791784.1:g.9726C>T, XM_047421310.1:c.-502C>G, XM_047421310.1:c.-502C>T, NP_009149.2:p.Gln10Glu, NP_009149.2:p.Gln10Ter

Select item 14894155632.

rs1489415563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:124475113 (GRCh38)
8:125487354 (GRCh37)
Canonical SPDI:: NC_000008.11:124475112:G:C
Gene:: RNF139 (Varview), RNF139-DT (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.124475113G>C, NC_000008.10:g.125487354G>C, NG_012158.1:g.5347G>C, NM_007218.4:c.4G>C, NM_007218.3:c.4G>C, NW_025791784.1:g.9702G>C, XM_047421310.1:c.-526G>C, NP_009149.2:p.Ala2Pro

Select item 14886930373.

rs1488693037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:124475175 (GRCh38)
8:125487416 (GRCh37)
Canonical SPDI:: NC_000008.11:124475174:C:T
Gene:: RNF139 (Varview), RNF139-DT (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000032/8 (GnomAD_exomes)
T=0.000093/13 (GnomAD)
T=0.000144/38 (TOPMED)
HGVS:: NC_000008.11:g.124475175C>T, NC_000008.10:g.125487416C>T, NG_012158.1:g.5409C>T, NM_007218.4:c.66C>T, NM_007218.3:c.66C>T, NW_025791784.1:g.9764C>T, XM_047421310.1:c.-464C>T

Select item 14871816254.

rs1487181625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:124487223 (GRCh38)
8:125499464 (GRCh37)
Canonical SPDI:: NC_000008.11:124487222:C:G
Gene:: RNF139 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.124487223C>G, NC_000008.10:g.125499464C>G, NG_012158.1:g.17457C>G, NM_007218.4:c.1574C>G, NM_007218.3:c.1574C>G, NW_025791784.1:g.22173C>G, XM_047421310.1:c.1193C>G, NP_009149.2:p.Ala525Gly, XP_047277266.1:p.Ala398Gly

Select item 14865311595.

rs1486531159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:124485831 (GRCh38)
8:125498072 (GRCh37)
Canonical SPDI:: NC_000008.11:124485830:G:T
Gene:: RNF139 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_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.124485831G>T, NC_000008.10:g.125498072G>T, NG_012158.1:g.16065G>T, NM_007218.4:c.182G>T, NM_007218.3:c.182G>T, NW_025791784.1:g.20781G>T, XM_047421310.1:c.-200G>T, NP_009149.2:p.Gly61Val

Select item 14862077136.

rs1486207713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:124487555 (GRCh38)
8:125499796 (GRCh37)
Canonical SPDI:: NC_000008.11:124487554:G:C
Gene:: RNF139 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.124487555G>C, NC_000008.10:g.125499796G>C, NG_012158.1:g.17789G>C, NM_007218.4:c.1906G>C, NM_007218.3:c.1906G>C, NW_025791784.1:g.22505G>C, XM_047421310.1:c.1525G>C, NP_009149.2:p.Asp636His, XP_047277266.1:p.Asp509His

Select item 14857947087.

rs1485794708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:124486765 (GRCh38)
8:125499006 (GRCh37)
Canonical SPDI:: NC_000008.11:124486764:C:A
Gene:: RNF139 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.124486765C>A, NC_000008.10:g.125499006C>A, NG_012158.1:g.16999C>A, NM_007218.4:c.1116C>A, NM_007218.3:c.1116C>A, NW_025791784.1:g.21715C>A, XM_047421310.1:c.735C>A, NP_009149.2:p.Asp372Glu, XP_047277266.1:p.Asp245Glu

Select item 14857442548.

rs1485744254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:124486716 (GRCh38)
8:125498957 (GRCh37)
Canonical SPDI:: NC_000008.11:124486715:T:C
Gene:: RNF139 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124486716T>C, NC_000008.10:g.125498957T>C, NG_012158.1:g.16950T>C, NM_007218.4:c.1067T>C, NM_007218.3:c.1067T>C, NW_025791784.1:g.21666T>C, XM_047421310.1:c.686T>C, NP_009149.2:p.Met356Thr, XP_047277266.1:p.Met229Thr

Select item 14854794289.

rs1485479428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:124487214 (GRCh38)
8:125499455 (GRCh37)
Canonical SPDI:: NC_000008.11:124487213:G:A
Gene:: RNF139 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.124487214G>A, NC_000008.10:g.125499455G>A, NG_012158.1:g.17448G>A, NM_007218.4:c.1565G>A, NM_007218.3:c.1565G>A, NW_025791784.1:g.22164G>A, XM_047421310.1:c.1184G>A, NP_009149.2:p.Arg522His, XP_047277266.1:p.Arg395His

Select item 148194872210.

rs1481948722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:124486540 (GRCh38)
8:125498781 (GRCh37)
Canonical SPDI:: NC_000008.11:124486539:A:C,NC_000008.11:124486539:A:G
Gene:: RNF139 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.124486540A>C, NC_000008.11:g.124486540A>G, NC_000008.10:g.125498781A>C, NC_000008.10:g.125498781A>G, NG_012158.1:g.16774A>C, NG_012158.1:g.16774A>G, NM_007218.4:c.891A>C, NM_007218.4:c.891A>G, NM_007218.3:c.891A>C, NM_007218.3:c.891A>G, NW_025791784.1:g.21490A>C, NW_025791784.1:g.21490A>G, XM_047421310.1:c.510A>C, XM_047421310.1:c.510A>G

Select item 148035335311.

rs1480353353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:124486198 (GRCh38)
8:125498439 (GRCh37)
Canonical SPDI:: NC_000008.11:124486197:C:G
Gene:: RNF139 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.124486198C>G, NC_000008.10:g.125498439C>G, NG_012158.1:g.16432C>G, NM_007218.4:c.549C>G, NM_007218.3:c.549C>G, NW_025791784.1:g.21148C>G, XM_047421310.1:c.168C>G

Select item 148018401212.

rs1480184012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:124487173 (GRCh38)
8:125499414 (GRCh37)
Canonical SPDI:: NC_000008.11:124487172:C:T
Gene:: RNF139 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.124487173C>T, NC_000008.10:g.125499414C>T, NG_012158.1:g.17407C>T, NM_007218.4:c.1524C>T, NM_007218.3:c.1524C>T, NW_025791784.1:g.22123C>T, XM_047421310.1:c.1143C>T

Select item 147633066813.

rs1476330668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:124487241 (GRCh38)
8:125499482 (GRCh37)
Canonical SPDI:: NC_000008.11:124487240:C:T
Gene:: RNF139 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124487241C>T, NC_000008.10:g.125499482C>T, NG_012158.1:g.17475C>T, NM_007218.4:c.1592C>T, NM_007218.3:c.1592C>T, NW_025791784.1:g.22191C>T, XM_047421310.1:c.1211C>T, NP_009149.2:p.Ser531Leu, XP_047277266.1:p.Ser404Leu

Select item 147576335914.

rs1475763359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:124486564 (GRCh38)
8:125498805 (GRCh37)
Canonical SPDI:: NC_000008.11:124486563:G:A
Gene:: RNF139 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.124486564G>A, NC_000008.10:g.125498805G>A, NG_012158.1:g.16798G>A, NM_007218.4:c.915G>A, NM_007218.3:c.915G>A, NW_025791784.1:g.21514G>A, XM_047421310.1:c.534G>A

Select item 147558721615.

rs1475587216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:124487530 (GRCh38)
8:125499771 (GRCh37)
Canonical SPDI:: NC_000008.11:124487529:G:A
Gene:: RNF139 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.124487530G>A, NC_000008.10:g.125499771G>A, NG_012158.1:g.17764G>A, NM_007218.4:c.1881G>A, NM_007218.3:c.1881G>A, NW_025791784.1:g.22480G>A, XM_047421310.1:c.1500G>A

Select item 146991288216.

rs1469912882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:124486922 (GRCh38)
8:125499163 (GRCh37)
Canonical SPDI:: NC_000008.11:124486921:G:A
Gene:: RNF139 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.124486922G>A, NC_000008.10:g.125499163G>A, NG_012158.1:g.17156G>A, NM_007218.4:c.1273G>A, NM_007218.3:c.1273G>A, NW_025791784.1:g.21872G>A, XM_047421310.1:c.892G>A, NP_009149.2:p.Ala425Thr, XP_047277266.1:p.Ala298Thr

Select item 146887798017.

rs1468877980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:124486339 (GRCh38)
8:125498580 (GRCh37)
Canonical SPDI:: NC_000008.11:124486338:G:A
Gene:: RNF139 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.124486339G>A, NC_000008.10:g.125498580G>A, NG_012158.1:g.16573G>A, NM_007218.4:c.690G>A, NM_007218.3:c.690G>A, NW_025791784.1:g.21289G>A, XM_047421310.1:c.309G>A

Select item 146856863818.

rs1468568638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:124487382 (GRCh38)
8:125499623 (GRCh37)
Canonical SPDI:: NC_000008.11:124487381:T:G
Gene:: RNF139 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124487382T>G, NC_000008.10:g.125499623T>G, NG_012158.1:g.17616T>G, NM_007218.4:c.1733T>G, NM_007218.3:c.1733T>G, NW_025791784.1:g.22332T>G, XM_047421310.1:c.1352T>G, NP_009149.2:p.Ile578Ser, XP_047277266.1:p.Ile451Ser

Select item 146754215719.

rs1467542157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:124486526 (GRCh38)
8:125498767 (GRCh37)
Canonical SPDI:: NC_000008.11:124486525:G:T
Gene:: RNF139 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.124486526G>T, NC_000008.10:g.125498767G>T, NG_012158.1:g.16760G>T, NM_007218.4:c.877G>T, NM_007218.3:c.877G>T, NW_025791784.1:g.21476G>T, XM_047421310.1:c.496G>T, NP_009149.2:p.Gly293Cys, XP_047277266.1:p.Gly166Cys

Select item 146716158720.

rs1467161587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:124486623 (GRCh38)
8:125498864 (GRCh37)
Canonical SPDI:: NC_000008.11:124486622:T:G
Gene:: RNF139 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.124486623T>G, NC_000008.10:g.125498864T>G, NG_012158.1:g.16857T>G, NM_007218.4:c.974T>G, NM_007218.3:c.974T>G, NW_025791784.1:g.21573T>G, XM_047421310.1:c.593T>G, NP_009149.2:p.Phe325Cys, XP_047277266.1:p.Phe198Cys

<< First< Prev

Page of 28

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 554

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity