SNP Links for Protein (Select 84875539) - SNP

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Links from Protein

Items: 1 to 20 of 150

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Select item 14859738591.

rs1485973859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:12810093 (GRCh38)
X:12828212 (GRCh37)
Canonical SPDI:: NC_000023.11:12810092:T:A
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.12810093T>A, NC_000023.10:g.12828212T>A, NG_016717.1:g.23739T>A, NM_002765.5:c.477T>A, NM_002765.4:c.477T>A, NM_001039091.3:c.486T>A, NM_001039091.2:c.486T>A

Select item 14858763472.

rs1485876347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:12822751 (GRCh38)
X:12840870 (GRCh37)
Canonical SPDI:: NC_000023.11:12822750:C:T
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.12822751C>T, NC_000023.10:g.12840870C>T, NG_016717.1:g.36397C>T, NM_002765.5:c.912C>T, NM_002765.4:c.912C>T, NM_001039091.3:c.921C>T, NM_001039091.2:c.921C>T

Select item 14839371803.

rs1483937180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:12820686 (GRCh38)
X:12838805 (GRCh37)
Canonical SPDI:: NC_000023.11:12820685:C:T
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.12820686C>T, NC_000023.10:g.12838805C>T, NG_016717.1:g.34332C>T, NM_002765.5:c.747C>T, NM_002765.4:c.747C>T, NM_001039091.3:c.756C>T, NM_001039091.2:c.756C>T

Select item 14700899934.

rs1470089993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:12809302 (GRCh38)
X:12827421 (GRCh37)
Canonical SPDI:: NC_000023.11:12809301:C:T
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.12809302C>T, NC_000023.10:g.12827421C>T, NG_016717.1:g.22948C>T, NM_002765.5:c.375C>T, NM_002765.4:c.375C>T, NM_001039091.3:c.384C>T, NM_001039091.2:c.384C>T

Select item 14670208285.

rs1467020828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:12819639 (GRCh38)
X:12837758 (GRCh37)
Canonical SPDI:: NC_000023.11:12819638:C:T
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00006/16 (TOPMED)
HGVS:: NC_000023.11:g.12819639C>T, NC_000023.10:g.12837758C>T, NG_016717.1:g.33285C>T, NM_002765.5:c.663C>T, NM_002765.4:c.663C>T, NM_001039091.3:c.672C>T, NM_001039091.2:c.672C>T

Select item 14634127606.

rs1463412760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:12820785 (GRCh38)
X:12838904 (GRCh37)
Canonical SPDI:: NC_000023.11:12820784:A:G
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12820785A>G, NC_000023.10:g.12838904A>G, NG_016717.1:g.34431A>G, NM_002765.5:c.846A>G, NM_002765.4:c.846A>G, NM_001039091.3:c.855A>G, NM_001039091.2:c.855A>G

Select item 14603113747.

rs1460311374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:12819669 (GRCh38)
X:12837788 (GRCh37)
Canonical SPDI:: NC_000023.11:12819668:T:C
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.12819669T>C, NC_000023.10:g.12837788T>C, NG_016717.1:g.33315T>C, NM_002765.5:c.693T>C, NM_002765.4:c.693T>C, NM_001039091.3:c.702T>C, NM_001039091.2:c.702T>C

Select item 14594519958.

rs1459451995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:12822763 (GRCh38)
X:12840882 (GRCh37)
Canonical SPDI:: NC_000023.11:12822762:C:T
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000022/4 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12822763C>T, NC_000023.10:g.12840882C>T, NG_016717.1:g.36409C>T, NM_002765.5:c.924C>T, NM_002765.4:c.924C>T, NM_001039091.3:c.933C>T, NM_001039091.2:c.933C>T

Select item 14383248899.

rs1438324889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:12810099 (GRCh38)
X:12828218 (GRCh37)
Canonical SPDI:: NC_000023.11:12810098:G:A
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12810099G>A, NC_000023.10:g.12828218G>A, NG_016717.1:g.23745G>A, NM_002765.5:c.483G>A, NM_002765.4:c.483G>A, NM_001039091.3:c.492G>A, NM_001039091.2:c.492G>A

Select item 143156215510.

rs1431562155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:12791587 (GRCh38)
X:12809706 (GRCh37)
Canonical SPDI:: NC_000023.11:12791586:G:A
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.12791587G>A, NC_000023.10:g.12809706G>A, NG_016717.1:g.5233G>A, NM_002765.5:c.90G>A, NM_002765.4:c.90G>A, NM_001039091.3:c.90G>A, NM_001039091.2:c.90G>A

Select item 143027464411.

rs1430274644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:12822720 (GRCh38)
X:12840839 (GRCh37)
Canonical SPDI:: NC_000023.11:12822719:T:C
Gene:: PRPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12822720T>C, NC_000023.10:g.12840839T>C, NG_016717.1:g.36366T>C, NM_002765.5:c.881T>C, NM_002765.4:c.881T>C, NM_001039091.3:c.890T>C, NM_001039091.2:c.890T>C, NP_002756.1:p.Met294Thr, NP_001034180.1:p.Met297Thr

Select item 141373978612.

rs1413739786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:12819623 (GRCh38)
X:12837742 (GRCh37)
Canonical SPDI:: NC_000023.11:12819622:C:T
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.12819623C>T, NC_000023.10:g.12837742C>T, NG_016717.1:g.33269C>T, NM_002765.5:c.647C>T, NM_002765.4:c.647C>T, NM_001039091.3:c.656C>T, NM_001039091.2:c.656C>T, NP_002756.1:p.Ala216Val, NP_001034180.1:p.Ala219Val

Select item 139766088913.

rs1397660889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:12809290 (GRCh38)
X:12827409 (GRCh37)
Canonical SPDI:: NC_000023.11:12809289:G:A
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.12809290G>A, NC_000023.10:g.12827409G>A, NG_016717.1:g.22936G>A, NM_002765.5:c.363G>A, NM_002765.4:c.363G>A, NM_001039091.3:c.372G>A, NM_001039091.2:c.372G>A

Select item 139483739614.

rs1394837396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:12822783 (GRCh38)
X:12840902 (GRCh37)
Canonical SPDI:: NC_000023.11:12822782:A:G
Gene:: PRPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12822783A>G, NC_000023.10:g.12840902A>G, NG_016717.1:g.36429A>G, NM_002765.5:c.944A>G, NM_002765.4:c.944A>G, NM_001039091.3:c.953A>G, NM_001039091.2:c.953A>G, NP_002756.1:p.His315Arg, NP_001034180.1:p.His318Arg

Select item 138577328315.

rs1385773283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:12799285 (GRCh38)
X:12817404 (GRCh37)
Canonical SPDI:: NC_000023.11:12799284:G:T
Gene:: PRPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.12799285G>T, NC_000023.10:g.12817404G>T, NG_016717.1:g.12931G>T, NM_002765.5:c.201G>T, NM_002765.4:c.201G>T, NM_001039091.3:c.201G>T, NM_001039091.2:c.201G>T

Select item 137738503716.

rs1377385037 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGTCGTGCCCCAATTTCTGCAAAACTTGTGGCCAATATGCT [Show Flanks]
Chromosome:: X:12799390 (GRCh38)
X:12817510 (GRCh37)
Canonical SPDI:: NC_000023.11:12799390::AGTCGTGCCCCAATTTCTGCAAAACTTGTGGCCAATATGCT
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,splice_donor_variant
HGVS:: NC_000023.11:g.12799390_12799391insAGTCGTGCCCCAATTTCTGCAAAACTTGTGGCCAATATGCT, NC_000023.10:g.12817509_12817510insAGTCGTGCCCCAATTTCTGCAAAACTTGTGGCCAATATGCT, NG_016717.1:g.13036_13037insAGTCGTGCCCCAATTTCTGCAAAACTTGTGGCCAATATGCT, NM_001039091.3:c.306_307insAGTCGTGCCCCAATTTCTGCAAAACTTGTGGCCAATATGCT, NM_001039091.2:c.306_307insAGTCGTGCCCCAATTTCTGCAAAACTTGTGGCCAATATGCT, NP_001034180.1:p.Val103fs

Select item 137132041217.

rs1371320412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:12820775 (GRCh38)
X:12838894 (GRCh37)
Canonical SPDI:: NC_000023.11:12820774:A:T
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.12820775A>T, NC_000023.10:g.12838894A>T, NG_016717.1:g.34421A>T, NM_002765.5:c.836A>T, NM_002765.4:c.836A>T, NM_001039091.3:c.845A>T, NM_001039091.2:c.845A>T, NP_002756.1:p.Asp279Val, NP_001034180.1:p.Asp282Val

Select item 136688056818.

rs1366880568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:12799252 (GRCh38)
X:12817371 (GRCh37)
Canonical SPDI:: NC_000023.11:12799251:C:T
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12799252C>T, NC_000023.10:g.12817371C>T, NG_016717.1:g.12898C>T, NM_002765.5:c.168C>T, NM_002765.4:c.168C>T, NM_001039091.3:c.168C>T, NM_001039091.2:c.168C>T

Select item 135048029519.

rs1350480295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:12809275 (GRCh38)
X:12827394 (GRCh37)
Canonical SPDI:: NC_000023.11:12809274:G:A,NC_000023.11:12809274:G:C
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12809275G>A, NC_000023.11:g.12809275G>C, NC_000023.10:g.12827394G>A, NC_000023.10:g.12827394G>C, NG_016717.1:g.22921G>A, NG_016717.1:g.22921G>C, NM_002765.5:c.348G>A, NM_002765.5:c.348G>C, NM_002765.4:c.348G>A, NM_002765.4:c.348G>C, NM_001039091.3:c.357G>A, NM_001039091.3:c.357G>C, NM_001039091.2:c.357G>A, NM_001039091.2:c.357G>C

Select item 135037979020.

rs1350379790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:12799398 (GRCh38)
X:12817517 (GRCh37)
Canonical SPDI:: NC_000023.11:12799397:A:G
Gene:: PRPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.12799398A>G, NC_000023.10:g.12817517A>G, NG_016717.1:g.13044A>G, NM_001039091.3:c.314A>G, NM_001039091.2:c.314A>G, NP_001034180.1:p.Glu105Gly