SNP Links for Protein (Select 94983919) - SNP

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Links from Protein

Items: 1 to 20 of 42

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Select item 14600464961.

rs1460046496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48402646 (GRCh38)
X:48262088 (GRCh37)
Canonical SPDI:: NC_000023.11:48402645:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.48402646T>C, NW_004070880.2:g.642075T>C, NC_000023.10:g.48262088T>C, NM_001034832.5:c.*28A>G, NM_001034832.4:c.*28A>G, NM_001034832.3:c.*28A>G, NM_001040612.4:c.459A>G, NM_001040612.3:c.459A>G, NM_001040612.2:c.459A>G

Select item 13535452032.

rs1353545203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48402663 (GRCh38)
X:48262105 (GRCh37)
Canonical SPDI:: NC_000023.11:48402662:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001096/13 (ALFA)
T=0.000832/4 (1000Genomes)
T=0.001256/126 (GnomAD)
HGVS:: NC_000023.11:g.48402663C>T, NW_004070880.2:g.642092C>T, NC_000023.10:g.48262105C>T, NM_001034832.5:c.*11G>A, NM_001034832.4:c.*11G>A, NM_001034832.3:c.*11G>A, NM_001040612.4:c.442G>A, NM_001040612.3:c.442G>A, NM_001040612.2:c.442G>A, NP_001035702.1:p.Gly148Arg

Select item 12388346333.

rs1238834633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48402666 (GRCh38)
X:48262108 (GRCh37)
Canonical SPDI:: NC_000023.11:48402665:G:A
Gene:: SSX4B (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000069/7 (GnomAD)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.48402666G>A, NW_004070880.2:g.642095G>A, NC_000023.10:g.48262108G>A, NM_001034832.5:c.*8C>T, NM_001034832.4:c.*8C>T, NM_001034832.3:c.*8C>T, NM_001040612.4:c.439C>T, NM_001040612.3:c.439C>T, NM_001040612.2:c.439C>T, NP_001035702.1:p.Arg147Trp

Select item 12057854764.

rs1205785476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48402662 (GRCh38)
X:48262104 (GRCh37)
Canonical SPDI:: NC_000023.11:48402661:C:G
Gene:: SSX4B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.48402662C>G, NW_004070880.2:g.642091C>G, NC_000023.10:g.48262104C>G, NM_001034832.5:c.*12G>C, NM_001034832.4:c.*12G>C, NM_001034832.3:c.*12G>C, NM_001040612.4:c.443G>C, NM_001040612.3:c.443G>C, NM_001040612.2:c.443G>C, NP_001035702.1:p.Gly148Ala

Select item 12057528055.

rs1205752805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:48402645 (GRCh38)
X:48262087 (GRCh37)
Canonical SPDI:: NC_000023.11:48402644:A:C
Gene:: SSX4B (Varview)
Functional Consequence:: terminator_codon_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.48402645A>C, NW_004070880.2:g.642074A>C, NC_000023.10:g.48262087A>C, NM_001034832.5:c.*29T>G, NM_001034832.4:c.*29T>G, NM_001034832.3:c.*29T>G, NM_001040612.4:c.460T>G, NM_001040612.3:c.460T>G, NM_001040612.2:c.460T>G, NP_001035702.1:p.Ter154Gly

Select item 7827619036.

rs782761903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48410769 (GRCh38)
X:48270212 (GRCh37)
Canonical SPDI:: NC_000023.11:48410768:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (ExAC)
HGVS:: NC_000023.11:g.48410769A>G, NW_004070880.2:g.650198A>G, NC_000023.10:g.48270212A>G, NM_001034832.5:c.165T>C, NM_001034832.4:c.165T>C, NM_001034832.3:c.165T>C, NM_001040612.4:c.165T>C, NM_001040612.3:c.165T>C, NM_001040612.2:c.165T>C, XM_017029613.2:c.165T>C, XM_017029613.1:c.165T>C

Select item 7827492437.

rs782749243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:48410764 (GRCh38)
X:48270207 (GRCh37)
Canonical SPDI:: NC_000023.11:48410763:A:C,NC_000023.11:48410763:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (ExAC)
C=0.01519/41 (KOREAN)
HGVS:: NC_000023.11:g.48410764A>C, NC_000023.11:g.48410764A>G, NW_004070880.2:g.650193A>C, NW_004070880.2:g.650193A>G, NC_000023.10:g.48270207A>C, NC_000023.10:g.48270207A>G, NM_001034832.5:c.170T>G, NM_001034832.5:c.170T>C, NM_001034832.4:c.170T>G, NM_001034832.4:c.170T>C, NM_001034832.3:c.170T>G, NM_001034832.3:c.170T>C, NM_001040612.4:c.170T>G, NM_001040612.4:c.170T>C, NM_001040612.3:c.170T>G, NM_001040612.3:c.170T>C, NM_001040612.2:c.170T>G, NM_001040612.2:c.170T>C, XM_017029613.2:c.170T>G, XM_017029613.2:c.170T>C, XM_017029613.1:c.170T>G, XM_017029613.1:c.170T>C, NP_001030004.1:p.Val57Gly, NP_001030004.1:p.Val57Ala, NP_001035702.1:p.Val57Gly, NP_001035702.1:p.Val57Ala, XP_016885102.1:p.Val57Gly, XP_016885102.1:p.Val57Ala

Select item 7827172208.

rs782717220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48410064 (GRCh38)
X:48269507 (GRCh37)
Canonical SPDI:: NC_000023.11:48410063:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00013/6 (GnomAD_exomes)
G=0.00017/2 (ExAC)
HGVS:: NC_000023.11:g.48410064A>G, NW_004070880.2:g.649493A>G, NC_000023.10:g.48269507A>G, NM_001034832.5:c.194T>C, NM_001034832.4:c.194T>C, NM_001034832.3:c.194T>C, NM_001040612.4:c.194T>C, NM_001040612.3:c.194T>C, NM_001040612.2:c.194T>C, XM_017029613.2:c.194T>C, XM_017029613.1:c.194T>C, NP_001030004.1:p.Val65Ala, NP_001035702.1:p.Val65Ala, XP_016885102.1:p.Val65Ala

Select item 7827094209.

rs782709420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48410795 (GRCh38)
X:48270238 (GRCh37)
Canonical SPDI:: NC_000023.11:48410794:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/1 (ExAC)
T=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48410795C>T, NW_004070880.2:g.650224C>T, NC_000023.10:g.48270238C>T, NM_001034832.5:c.139G>A, NM_001034832.4:c.139G>A, NM_001034832.3:c.139G>A, NM_001040612.4:c.139G>A, NM_001040612.3:c.139G>A, NM_001040612.2:c.139G>A, XM_017029613.2:c.139G>A, XM_017029613.1:c.139G>A, NP_001030004.1:p.Val47Ile, NP_001035702.1:p.Val47Ile, XP_016885102.1:p.Val47Ile

Select item 78269879510.

rs782698795 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:48410006 (GRCh38)
X:48269449 (GRCh37)
Canonical SPDI:: NC_000023.11:48410005:AAAA:AAA
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0./0 (ExAC)
HGVS:: NC_000023.11:g.48410009del, NW_004070880.2:g.649438del, NC_000023.10:g.48269452del, NM_001034832.5:c.252del, NM_001034832.4:c.252del, NM_001034832.3:c.252del, NM_001040612.4:c.252del, NM_001040612.3:c.252del, NM_001040612.2:c.252del, XM_017029613.2:c.252del, XM_017029613.1:c.252del, NP_001030004.1:p.Phe84fs, NP_001035702.1:p.Phe84fs, XP_016885102.1:p.Phe84fs

Select item 78269622211.

rs782696222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:48410044 (GRCh38)
X:48269487 (GRCh37)
Canonical SPDI:: NC_000023.11:48410043:G:A,NC_000023.11:48410043:G:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00006/3 (GnomAD_exomes)
C=0.00026/1 (1000Genomes)
HGVS:: NC_000023.11:g.48410044G>A, NC_000023.11:g.48410044G>C, NW_004070880.2:g.649473G>A, NW_004070880.2:g.649473G>C, NC_000023.10:g.48269487G>A, NC_000023.10:g.48269487G>C, NM_001034832.5:c.214C>T, NM_001034832.5:c.214C>G, NM_001034832.4:c.214C>T, NM_001034832.4:c.214C>G, NM_001034832.3:c.214C>T, NM_001034832.3:c.214C>G, NM_001040612.4:c.214C>T, NM_001040612.4:c.214C>G, NM_001040612.3:c.214C>T, NM_001040612.3:c.214C>G, NM_001040612.2:c.214C>T, NM_001040612.2:c.214C>G, XM_017029613.2:c.214C>T, XM_017029613.2:c.214C>G, XM_017029613.1:c.214C>T, XM_017029613.1:c.214C>G, NP_001030004.1:p.Arg72Cys, NP_001030004.1:p.Arg72Gly, NP_001035702.1:p.Arg72Cys, NP_001035702.1:p.Arg72Gly, XP_016885102.1:p.Arg72Cys, XP_016885102.1:p.Arg72Gly

Select item 78267040212.

rs782670402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48410816 (GRCh38)
X:48270259 (GRCh37)
Canonical SPDI:: NC_000023.11:48410815:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00011/9 (ExAC)
HGVS:: NC_000023.11:g.48410816T>C, NW_004070880.2:g.650245T>C, NC_000023.10:g.48270259T>C, NM_001034832.5:c.118A>G, NM_001034832.4:c.118A>G, NM_001034832.3:c.118A>G, NM_001040612.4:c.118A>G, NM_001040612.3:c.118A>G, NM_001040612.2:c.118A>G, XM_017029613.2:c.118A>G, XM_017029613.1:c.118A>G, NP_001030004.1:p.Met40Val, NP_001035702.1:p.Met40Val, XP_016885102.1:p.Met40Val

Select item 78265281813.

rs782652818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:48411335 (GRCh38)
X:48270777 (GRCh37)
Canonical SPDI:: NC_000023.11:48411334:T:A
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00067/5 (ALFA)
A=0./0 (ExAC)
A=0.00056/21 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48411335T>A, NW_004070880.2:g.650764T>A, NC_000023.10:g.48270777T>A, NM_001034832.5:c.38A>T, NM_001034832.4:c.38A>T, NM_001034832.3:c.38A>T, NM_001040612.4:c.38A>T, NM_001040612.3:c.38A>T, NM_001040612.2:c.38A>T, XM_017029613.2:c.38A>T, XM_017029613.1:c.38A>T, NP_001030004.1:p.Asp13Val, NP_001035702.1:p.Asp13Val, XP_016885102.1:p.Asp13Val

Select item 78262050014.

rs782620500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48410831 (GRCh38)
X:48270274 (GRCh37)
Canonical SPDI:: NC_000023.11:48410830:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0./0 (ExAC)
HGVS:: NC_000023.11:g.48410831T>C, NW_004070880.2:g.650260T>C, NC_000023.10:g.48270274T>C, NM_001034832.5:c.103A>G, NM_001034832.4:c.103A>G, NM_001034832.3:c.103A>G, NM_001040612.4:c.103A>G, NM_001040612.3:c.103A>G, NM_001040612.2:c.103A>G, XM_017029613.2:c.103A>G, XM_017029613.1:c.103A>G, NP_001030004.1:p.Lys35Glu, NP_001035702.1:p.Lys35Glu, XP_016885102.1:p.Lys35Glu

Select item 78252396215.

rs782523962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48410782 (GRCh38)
X:48270225 (GRCh37)
Canonical SPDI:: NC_000023.11:48410781:A:G
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
G=0.000012/1 (ExAC)
HGVS:: NC_000023.11:g.48410782A>G, NW_004070880.2:g.650211A>G, NC_000023.10:g.48270225A>G, NM_001034832.5:c.152T>C, NM_001034832.4:c.152T>C, NM_001034832.3:c.152T>C, NM_001040612.4:c.152T>C, NM_001040612.3:c.152T>C, NM_001040612.2:c.152T>C, XM_017029613.2:c.152T>C, XM_017029613.1:c.152T>C, NP_001030004.1:p.Met51Thr, NP_001035702.1:p.Met51Thr, XP_016885102.1:p.Met51Thr

Select item 78250939216.

rs782509392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48410814 (GRCh38)
X:48270257 (GRCh37)
Canonical SPDI:: NC_000023.11:48410813:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/3 (ExAC)
HGVS:: NC_000023.11:g.48410814C>T, NW_004070880.2:g.650243C>T, NC_000023.10:g.48270257C>T, NM_001034832.5:c.120G>A, NM_001034832.4:c.120G>A, NM_001034832.3:c.120G>A, NM_001040612.4:c.120G>A, NM_001040612.3:c.120G>A, NM_001040612.2:c.120G>A, XM_017029613.2:c.120G>A, XM_017029613.1:c.120G>A, NP_001030004.1:p.Met40Ile, NP_001035702.1:p.Met40Ile, XP_016885102.1:p.Met40Ile

Select item 78248187517.

rs782481875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48410803 (GRCh38)
X:48270246 (GRCh37)
Canonical SPDI:: NC_000023.11:48410802:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/2 (GnomAD_exomes)
C=0.000024/2 (ExAC)
HGVS:: NC_000023.11:g.48410803T>C, NW_004070880.2:g.650232T>C, NC_000023.10:g.48270246T>C, NM_001034832.5:c.131A>G, NM_001034832.4:c.131A>G, NM_001034832.3:c.131A>G, NM_001040612.4:c.131A>G, NM_001040612.3:c.131A>G, NM_001040612.2:c.131A>G, XM_017029613.2:c.131A>G, XM_017029613.1:c.131A>G, NP_001030004.1:p.Glu44Gly, NP_001035702.1:p.Glu44Gly, XP_016885102.1:p.Glu44Gly

Select item 78246983118.

rs782469831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48411332 (GRCh38)
X:48270774 (GRCh37)
Canonical SPDI:: NC_000023.11:48411331:T:C
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00066/5 (ALFA)
C=0./0 (ExAC)
C=0.00058/22 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48411332T>C, NW_004070880.2:g.650761T>C, NC_000023.10:g.48270774T>C, NM_001034832.5:c.41A>G, NM_001034832.4:c.41A>G, NM_001034832.3:c.41A>G, NM_001040612.4:c.41A>G, NM_001040612.3:c.41A>G, NM_001040612.2:c.41A>G, XM_017029613.2:c.41A>G, XM_017029613.1:c.41A>G, NP_001030004.1:p.Asp14Gly, NP_001035702.1:p.Asp14Gly, XP_016885102.1:p.Asp14Gly

Select item 78239709519.

rs782397095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48410858 (GRCh38)
X:48270301 (GRCh37)
Canonical SPDI:: NC_000023.11:48410857:C:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000011/2 (GnomAD_exomes)
T=0.000035/3 (ExAC)
HGVS:: NC_000023.11:g.48410858C>T, NW_004070880.2:g.650287C>T, NC_000023.10:g.48270301C>T, NM_001034832.5:c.76G>A, NM_001034832.4:c.76G>A, NM_001034832.3:c.76G>A, NM_001040612.4:c.76G>A, NM_001040612.3:c.76G>A, NM_001040612.2:c.76G>A, XM_017029613.2:c.76G>A, XM_017029613.1:c.76G>A, NP_001030004.1:p.Asp26Asn, NP_001035702.1:p.Asp26Asn, XP_016885102.1:p.Asp26Asn

Select item 78234598720.

rs782345987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:48409996 (GRCh38)
X:48269439 (GRCh37)
Canonical SPDI:: NC_000023.11:48409995:G:A,NC_000023.11:48409995:G:T
Gene:: SSX4B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000023.11:g.48409996G>A, NC_000023.11:g.48409996G>T, NW_004070880.2:g.649425G>A, NW_004070880.2:g.649425G>T, NC_000023.10:g.48269439G>A, NC_000023.10:g.48269439G>T, NM_001034832.5:c.262C>T, NM_001034832.5:c.262C>A, NM_001034832.4:c.262C>T, NM_001034832.4:c.262C>A, NM_001034832.3:c.262C>T, NM_001034832.3:c.262C>A, NM_001040612.4:c.262C>T, NM_001040612.4:c.262C>A, NM_001040612.3:c.262C>T, NM_001040612.3:c.262C>A, NM_001040612.2:c.262C>T, NM_001040612.2:c.262C>A, XM_017029613.2:c.262C>T, XM_017029613.2:c.262C>A, XM_017029613.1:c.262C>T, XM_017029613.1:c.262C>A, NP_001030004.1:p.Arg88Ter, NP_001035702.1:p.Arg88Ter, XP_016885102.1:p.Arg88Ter

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SNP Links for Protein (Select 94983919) (42)
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