SNP Links for Protein (Select 18643383) - SNP

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Links from Protein

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Select item 14887737891.

rs1488773789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:40733185 (GRCh38)
19:41239090 (GRCh37)
Canonical SPDI:: NC_000019.10:40733184:A:C
Gene:: ITPKC (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40733185A>C, NC_000019.9:g.41239090A>C, NG_012970.1:g.21083A>C, NM_025194.3:c.1495A>C, NM_025194.2:c.1495A>C, NM_001411098.1:c.1495A>C, XM_047439468.1:c.1495A>C, XM_047439467.1:c.1495A>C, XM_047439466.1:c.1495A>C, NP_079470.1:p.Lys499Gln, XP_047295424.1:p.Lys499Gln, XP_047295423.1:p.Lys499Gln, XP_047295422.1:p.Lys499Gln

Select item 14871897352.

rs1487189735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40717391 (GRCh38)
19:41223296 (GRCh37)
Canonical SPDI:: NC_000019.10:40717390:C:T
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40717391C>T, NC_000019.9:g.41223296C>T, NG_027800.1:g.4495G>A, NG_012970.1:g.5289C>T, NM_025194.3:c.256C>T, NM_025194.2:c.256C>T, NM_001411098.1:c.256C>T, XM_047439468.1:c.256C>T, XM_047439467.1:c.256C>T, XM_047439466.1:c.256C>T, XM_047439469.1:c.256C>T, NP_079470.1:p.Gln86Ter, XP_047295424.1:p.Gln86Ter, XP_047295423.1:p.Gln86Ter, XP_047295422.1:p.Gln86Ter, XP_047295425.1:p.Gln86Ter

Select item 14870690233.

rs1487069023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40737008 (GRCh38)
19:41242913 (GRCh37)
Canonical SPDI:: NC_000019.10:40737007:C:T
Gene:: ITPKC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40737008C>T, NC_000019.9:g.41242913C>T, NG_012970.1:g.24906C>T, NM_025194.3:c.1697C>T, NM_025194.2:c.1697C>T, NM_001411098.1:c.1697C>T, XM_047439468.1:c.1697C>T, XM_047439467.1:c.1697C>T, XM_047439466.1:c.1697C>T, XM_047439469.1:c.1492C>T, NP_079470.1:p.Thr566Ile, XP_047295424.1:p.Thr566Ile, XP_047295423.1:p.Thr566Ile, XP_047295422.1:p.Thr566Ile, XP_047295425.1:p.Pro498Ser

Select item 14864029754.

rs1486402975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40718194 (GRCh38)
19:41224099 (GRCh37)
Canonical SPDI:: NC_000019.10:40718193:C:T
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40718194C>T, NC_000019.9:g.41224099C>T, NG_027800.1:g.3692G>A, NG_012970.1:g.6092C>T, NM_025194.3:c.1059C>T, NM_025194.2:c.1059C>T, NM_001411098.1:c.1059C>T, XM_047439468.1:c.1059C>T, XM_047439467.1:c.1059C>T, XM_047439466.1:c.1059C>T, XM_047439469.1:c.1059C>T

Select item 14858353965.

rs1485835396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40717984 (GRCh38)
19:41223889 (GRCh37)
Canonical SPDI:: NC_000019.10:40717983:C:T
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.40717984C>T, NC_000019.9:g.41223889C>T, NG_027800.1:g.3902G>A, NG_012970.1:g.5882C>T, NM_025194.3:c.849C>T, NM_025194.2:c.849C>T, NM_001411098.1:c.849C>T, XM_047439468.1:c.849C>T, XM_047439467.1:c.849C>T, XM_047439466.1:c.849C>T, XM_047439469.1:c.849C>T

Select item 14855066776.

rs1485506677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40718274 (GRCh38)
19:41224179 (GRCh37)
Canonical SPDI:: NC_000019.10:40718273:C:T
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.40718274C>T, NC_000019.9:g.41224179C>T, NG_027800.1:g.3612G>A, NG_012970.1:g.6172C>T, NM_025194.3:c.1139C>T, NM_025194.2:c.1139C>T, NM_001411098.1:c.1139C>T, XM_047439468.1:c.1139C>T, XM_047439467.1:c.1139C>T, XM_047439466.1:c.1139C>T, XM_047439469.1:c.1139C>T, NP_079470.1:p.Pro380Leu, XP_047295424.1:p.Pro380Leu, XP_047295423.1:p.Pro380Leu, XP_047295422.1:p.Pro380Leu, XP_047295425.1:p.Pro380Leu

Select item 14848898427.

rs1484889842 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:40717885 (GRCh38)
19:41223791 (GRCh37)
Canonical SPDI:: NC_000019.10:40717885:AAAAAA:AAAAAAA
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40717891dup, NC_000019.9:g.41223796dup, NG_027800.1:g.4000dup, NG_012970.1:g.5789dup, NM_025194.3:c.756dup, NM_025194.2:c.756dup, NM_001411098.1:c.756dup, XM_047439468.1:c.756dup, XM_047439467.1:c.756dup, XM_047439466.1:c.756dup, XM_047439469.1:c.756dup, NP_079470.1:p.Gln253fs, XP_047295424.1:p.Gln253fs, XP_047295423.1:p.Gln253fs, XP_047295422.1:p.Gln253fs, XP_047295425.1:p.Gln253fs

Select item 14814566278.

rs1481456627 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:40718097 (GRCh38)
19:41224003 (GRCh37)
Canonical SPDI:: NC_000019.10:40718097:T:TT
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40718098dup, NC_000019.9:g.41224003dup, NG_027800.1:g.3788dup, NG_012970.1:g.5996dup, NM_025194.3:c.963dup, NM_025194.2:c.963dup, NM_001411098.1:c.963dup, XM_047439468.1:c.963dup, XM_047439467.1:c.963dup, XM_047439466.1:c.963dup, XM_047439469.1:c.963dup, NP_079470.1:p.Ser322Ter, XP_047295424.1:p.Ser322Ter, XP_047295423.1:p.Ser322Ter, XP_047295422.1:p.Ser322Ter, XP_047295425.1:p.Ser322Ter

Select item 14813119279.

rs1481311927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:40729254 (GRCh38)
19:41235159 (GRCh37)
Canonical SPDI:: NC_000019.10:40729253:T:C,NC_000019.10:40729253:T:G
Gene:: ITPKC (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40729254T>C, NC_000019.10:g.40729254T>G, NC_000019.9:g.41235159T>C, NC_000019.9:g.41235159T>G, NG_012970.1:g.17152T>C, NG_012970.1:g.17152T>G, NM_025194.3:c.1308T>C, NM_025194.3:c.1308T>G, NM_025194.2:c.1308T>C, NM_025194.2:c.1308T>G, NM_001411098.1:c.1308T>C, NM_001411098.1:c.1308T>G, XM_047439468.1:c.1308T>C, XM_047439468.1:c.1308T>G, XM_047439467.1:c.1308T>C, XM_047439467.1:c.1308T>G, XM_047439466.1:c.1308T>C, XM_047439466.1:c.1308T>G, XM_047439469.1:c.1308T>C, XM_047439469.1:c.1308T>G, NP_079470.1:p.Cys436Trp, XP_047295424.1:p.Cys436Trp, XP_047295423.1:p.Cys436Trp, XP_047295422.1:p.Cys436Trp, XP_047295425.1:p.Cys436Trp

Select item 147541869110.

rs1475418691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40717291 (GRCh38)
19:41223196 (GRCh37)
Canonical SPDI:: NC_000019.10:40717290:G:A
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40717291G>A, NC_000019.9:g.41223196G>A, NG_027800.1:g.4595C>T, NG_012970.1:g.5189G>A, NM_025194.3:c.156G>A, NM_025194.2:c.156G>A, NM_001411098.1:c.156G>A, XM_047439468.1:c.156G>A, XM_047439467.1:c.156G>A, XM_047439466.1:c.156G>A, XM_047439469.1:c.156G>A

Select item 147479034011.

rs1474790340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:40717382 (GRCh38)
19:41223288 (GRCh37)
Canonical SPDI:: NC_000019.10:40717382:A:AA
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40717383dup, NC_000019.9:g.41223288dup, NG_027800.1:g.4503dup, NG_012970.1:g.5281dup, NM_025194.3:c.248dup, NM_025194.2:c.248dup, NM_001411098.1:c.248dup, XM_047439468.1:c.248dup, XM_047439467.1:c.248dup, XM_047439466.1:c.248dup, XM_047439469.1:c.248dup, NP_079470.1:p.Ser84fs, XP_047295424.1:p.Ser84fs, XP_047295423.1:p.Ser84fs, XP_047295422.1:p.Ser84fs, XP_047295425.1:p.Ser84fs

Select item 147268247312.

rs1472682473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:40717533 (GRCh38)
19:41223438 (GRCh37)
Canonical SPDI:: NC_000019.10:40717532:C:A
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40717533C>A, NC_000019.9:g.41223438C>A, NG_027800.1:g.4353G>T, NG_012970.1:g.5431C>A, NM_025194.3:c.398C>A, NM_025194.2:c.398C>A, NM_001411098.1:c.398C>A, XM_047439468.1:c.398C>A, XM_047439467.1:c.398C>A, XM_047439466.1:c.398C>A, XM_047439469.1:c.398C>A, NP_079470.1:p.Thr133Lys, XP_047295424.1:p.Thr133Lys, XP_047295423.1:p.Thr133Lys, XP_047295422.1:p.Thr133Lys, XP_047295425.1:p.Thr133Lys

Select item 147194916313.

rs1471949163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40717301 (GRCh38)
19:41223206 (GRCh37)
Canonical SPDI:: NC_000019.10:40717300:G:A
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40717301G>A, NC_000019.9:g.41223206G>A, NG_027800.1:g.4585C>T, NG_012970.1:g.5199G>A, NM_025194.3:c.166G>A, NM_025194.2:c.166G>A, NM_001411098.1:c.166G>A, XM_047439468.1:c.166G>A, XM_047439467.1:c.166G>A, XM_047439466.1:c.166G>A, XM_047439469.1:c.166G>A, NP_079470.1:p.Gly56Ser, XP_047295424.1:p.Gly56Ser, XP_047295423.1:p.Gly56Ser, XP_047295422.1:p.Gly56Ser, XP_047295425.1:p.Gly56Ser

Select item 147177851714.

rs1471778517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:40733247 (GRCh38)
19:41239152 (GRCh37)
Canonical SPDI:: NC_000019.10:40733246:T:C
Gene:: ITPKC (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40733247T>C, NC_000019.9:g.41239152T>C, NG_012970.1:g.21145T>C, NM_025194.3:c.1557T>C, NM_025194.2:c.1557T>C, NM_001411098.1:c.1557T>C, XM_047439468.1:c.1557T>C, XM_047439467.1:c.1557T>C, XM_047439466.1:c.1557T>C

Select item 147157500015.

rs1471575000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:40717300 (GRCh38)
19:41223205 (GRCh37)
Canonical SPDI:: NC_000019.10:40717299:G:A,NC_000019.10:40717299:G:C,NC_000019.10:40717299:G:T
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.40717300G>A, NC_000019.10:g.40717300G>C, NC_000019.10:g.40717300G>T, NC_000019.9:g.41223205G>A, NC_000019.9:g.41223205G>C, NC_000019.9:g.41223205G>T, NG_027800.1:g.4586C>T, NG_027800.1:g.4586C>G, NG_027800.1:g.4586C>A, NG_012970.1:g.5198G>A, NG_012970.1:g.5198G>C, NG_012970.1:g.5198G>T, NM_025194.3:c.165G>A, NM_025194.3:c.165G>C, NM_025194.3:c.165G>T, NM_025194.2:c.165G>A, NM_025194.2:c.165G>C, NM_025194.2:c.165G>T, NM_001411098.1:c.165G>A, NM_001411098.1:c.165G>C, NM_001411098.1:c.165G>T, XM_047439468.1:c.165G>A, XM_047439468.1:c.165G>C, XM_047439468.1:c.165G>T, XM_047439467.1:c.165G>A, XM_047439467.1:c.165G>C, XM_047439467.1:c.165G>T, XM_047439466.1:c.165G>A, XM_047439466.1:c.165G>C, XM_047439466.1:c.165G>T, XM_047439469.1:c.165G>A, XM_047439469.1:c.165G>C, XM_047439469.1:c.165G>T

Select item 147120053316.

rs1471200533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:40717601 (GRCh38)
19:41223506 (GRCh37)
Canonical SPDI:: NC_000019.10:40717600:T:C
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40717601T>C, NC_000019.9:g.41223506T>C, NG_027800.1:g.4285A>G, NG_012970.1:g.5499T>C, NM_025194.3:c.466T>C, NM_025194.2:c.466T>C, NM_001411098.1:c.466T>C, XM_047439468.1:c.466T>C, XM_047439467.1:c.466T>C, XM_047439466.1:c.466T>C, XM_047439469.1:c.466T>C, NP_079470.1:p.Phe156Leu, XP_047295424.1:p.Phe156Leu, XP_047295423.1:p.Phe156Leu, XP_047295422.1:p.Phe156Leu, XP_047295425.1:p.Phe156Leu

Select item 146869528017.

rs1468695280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40718288 (GRCh38)
19:41224193 (GRCh37)
Canonical SPDI:: NC_000019.10:40718287:G:A
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40718288G>A, NC_000019.9:g.41224193G>A, NG_027800.1:g.3598C>T, NG_012970.1:g.6186G>A, NM_025194.3:c.1153G>A, NM_025194.2:c.1153G>A, NM_001411098.1:c.1153G>A, XM_047439468.1:c.1153G>A, XM_047439467.1:c.1153G>A, XM_047439466.1:c.1153G>A, XM_047439469.1:c.1153G>A, NP_079470.1:p.Gly385Arg, XP_047295424.1:p.Gly385Arg, XP_047295423.1:p.Gly385Arg, XP_047295422.1:p.Gly385Arg, XP_047295425.1:p.Gly385Arg

Select item 146764127018.

rs1467641270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40729320 (GRCh38)
19:41235225 (GRCh37)
Canonical SPDI:: NC_000019.10:40729319:C:T
Gene:: ITPKC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.40729320C>T, NC_000019.9:g.41235225C>T, NG_012970.1:g.17218C>T, NM_025194.3:c.1374C>T, NM_025194.2:c.1374C>T, NM_001411098.1:c.1374C>T, XM_047439468.1:c.1374C>T, XM_047439467.1:c.1374C>T, XM_047439466.1:c.1374C>T, XM_047439469.1:c.1374C>T

Select item 146566693319.

rs1465666933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTGGGACCCCCCTCC>- [Show Flanks]
Chromosome:: 19:40718164 (GRCh38)
19:41224069 (GRCh37)
Canonical SPDI:: NC_000019.10:40718161:CCAGTGGGACCCCCCTCC:CC
Gene:: COQ8B (Varview), ITPKC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40718164_40718179del, NC_000019.9:g.41224069_41224084del, NG_027800.1:g.3709_3724del, NG_012970.1:g.6062_6077del, NM_025194.3:c.1029_1044del, NM_025194.2:c.1029_1044del, NM_001411098.1:c.1029_1044del, XM_047439468.1:c.1029_1044del, XM_047439467.1:c.1029_1044del, XM_047439466.1:c.1029_1044del, XM_047439469.1:c.1029_1044del, NP_079470.1:p.Val344fs, XP_047295424.1:p.Val344fs, XP_047295423.1:p.Val344fs, XP_047295422.1:p.Val344fs, XP_047295425.1:p.Val344fs

Select item 146430211920.

rs1464302119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40733269 (GRCh38)
19:41239174 (GRCh37)
Canonical SPDI:: NC_000019.10:40733268:C:T
Gene:: ITPKC (Varview)
Functional Consequence:: intron_variant,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_000019.10:g.40733269C>T, NC_000019.9:g.41239174C>T, NG_012970.1:g.21167C>T, NM_025194.3:c.1579C>T, NM_025194.2:c.1579C>T, NM_001411098.1:c.1579C>T, XM_047439468.1:c.1579C>T, XM_047439467.1:c.1579C>T, XM_047439466.1:c.1579C>T, NP_079470.1:p.His527Tyr, XP_047295424.1:p.His527Tyr, XP_047295423.1:p.His527Tyr, XP_047295422.1:p.His527Tyr

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