SNP Links for Protein (Select 93141033) - SNP

Links from Protein

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Select item 14907138281.

rs1490713828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:154961588 (GRCh38)
7:154753298 (GRCh37)
Canonical SPDI:: NC_000007.14:154961587:A:G
Gene:: PAXIP1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.154961588A>G, NC_000007.13:g.154753298A>G, NG_023293.1:g.46385T>C, NM_007349.4:c.2188T>C, NM_007349.3:c.2188T>C, XM_011515982.4:c.2110T>C, XM_011515982.3:c.2110T>C, XM_011515982.2:c.2110T>C, XM_011515982.1:c.2110T>C, XM_047420059.1:c.1447T>C, XM_047420057.1:c.2086T>C, XM_047420058.1:c.2047T>C

Select item 14872396242.

rs1487239624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:155002873 (GRCh38)
7:154794583 (GRCh37)
Canonical SPDI:: NC_000007.14:155002872:G:A
Gene:: PAXIP1 (Varview), PAXIP1-DT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.155002873G>A, NC_000007.13:g.154794583G>A, NG_023293.1:g.5100C>T, NM_007349.4:c.57C>T, NM_007349.3:c.57C>T

Select item 14867307223.

rs1486730722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:154947930 (GRCh38)
7:154739640 (GRCh37)
Canonical SPDI:: NC_000007.14:154947929:T:C
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154947930T>C, NC_000007.13:g.154739640T>C, NG_023293.1:g.60043A>G, NM_007349.4:c.2895A>G, NM_007349.3:c.2895A>G, XM_011515982.4:c.2817A>G, XM_011515982.3:c.2817A>G, XM_011515982.2:c.2817A>G, XM_011515982.1:c.2817A>G, XM_047420059.1:c.2154A>G, XM_047420057.1:c.2793A>G, XM_047420058.1:c.2754A>G, NR_024476.1:n.1361T>C

Select item 14856534394.

rs1485653439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:154975696 (GRCh38)
7:154767406 (GRCh37)
Canonical SPDI:: NC_000007.14:154975695:A:C,NC_000007.14:154975695:A:G
Gene:: PAXIP1 (Varview), LOC124901781 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154975696A>C, NC_000007.14:g.154975696A>G, NC_000007.13:g.154767406A>C, NC_000007.13:g.154767406A>G, NG_023293.1:g.32277T>G, NG_023293.1:g.32277T>C, NM_007349.4:c.1074T>G, NM_007349.4:c.1074T>C, NM_007349.3:c.1074T>G, NM_007349.3:c.1074T>C, XM_011515982.4:c.996T>G, XM_011515982.4:c.996T>C, XM_011515982.3:c.996T>G, XM_011515982.3:c.996T>C, XM_011515982.2:c.996T>G, XM_011515982.2:c.996T>C, XM_011515982.1:c.996T>G, XM_011515982.1:c.996T>C, XM_047420059.1:c.333T>G, XM_047420059.1:c.333T>C, XM_047420057.1:c.972T>G, XM_047420057.1:c.972T>C, XM_047420058.1:c.933T>G, XM_047420058.1:c.933T>C, NP_031375.3:p.His358Gln, XP_011514284.1:p.His332Gln, XP_047276015.1:p.His111Gln, XP_047276013.1:p.His324Gln, XP_047276014.1:p.His311Gln

Select item 14832731085.

rs1483273108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:154968944 (GRCh38)
7:154760654 (GRCh37)
Canonical SPDI:: NC_000007.14:154968943:A:C
Gene:: PAXIP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.154968944A>C, NC_000007.13:g.154760654A>C, NG_023293.1:g.39029T>G, NM_007349.4:c.1257T>G, NM_007349.3:c.1257T>G, XM_011515982.4:c.1179T>G, XM_011515982.3:c.1179T>G, XM_011515982.2:c.1179T>G, XM_011515982.1:c.1179T>G, XM_047420059.1:c.516T>G, XM_047420057.1:c.1155T>G, XM_047420058.1:c.1116T>G

Select item 14827994686.

rs1482799468 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGGGCCTGCTGCTGCTGCTG>- [Show Flanks]
Chromosome:: 7:154968977 (GRCh38)
7:154760687 (GRCh37)
Canonical SPDI:: NC_000007.14:154968961:CTGCTGCTGCTGCTGCTGGGCCTGCTGCTGCTGCTG:CTGCTGCTGCTGCTG
Gene:: PAXIP1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGCTGCTGCTGCTG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.154968977_154968997del, NC_000007.13:g.154760687_154760707del, NG_023293.1:g.38991_39011del, NM_007349.4:c.1219_1239del, NM_007349.3:c.1219_1239del, XM_011515982.4:c.1141_1161del, XM_011515982.3:c.1141_1161del, XM_011515982.2:c.1141_1161del, XM_011515982.1:c.1141_1161del, XM_047420059.1:c.478_498del, XM_047420057.1:c.1117_1137del, XM_047420058.1:c.1078_1098del, NP_031375.3:p.Ala407_Gln413del, XP_011514284.1:p.Ala381_Gln387del, XP_047276015.1:p.Ala160_Gln166del, XP_047276013.1:p.Ala373_Gln379del, XP_047276014.1:p.Ala360_Gln366del

Select item 14808357367.

rs1480835736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:154946726 (GRCh38)
7:154738436 (GRCh37)
Canonical SPDI:: NC_000007.14:154946725:A:G
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_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_000007.14:g.154946726A>G, NC_000007.13:g.154738436A>G, NG_023293.1:g.61247T>C, NM_007349.4:c.3010T>C, NM_007349.3:c.3010T>C, XM_011515982.4:c.2932T>C, XM_011515982.3:c.2932T>C, XM_011515982.2:c.2932T>C, XM_011515982.1:c.2932T>C, XM_047420059.1:c.2269T>C, XM_047420057.1:c.2908T>C, XM_047420058.1:c.2869T>C, NR_024476.1:n.1182A>G, NR_024477.1:n.1135A>G, NP_031375.3:p.Ser1004Pro, XP_011514284.1:p.Ser978Pro, XP_047276015.1:p.Ser757Pro, XP_047276013.1:p.Ser970Pro, XP_047276014.1:p.Ser957Pro

Select item 14808267438.

rs1480826743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:154991024 (GRCh38)
7:154782734 (GRCh37)
Canonical SPDI:: NC_000007.14:154991023:G:A
Gene:: PAXIP1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154991024G>A, NC_000007.13:g.154782734G>A, NG_023293.1:g.16949C>T, NM_007349.4:c.306C>T, NM_007349.3:c.306C>T, XM_011515982.4:c.228C>T, XM_011515982.3:c.228C>T, XM_011515982.2:c.228C>T, XM_011515982.1:c.228C>T, XM_047420059.1:c.-436C>T, XM_047420057.1:c.41C>T, XM_047420058.1:c.41C>T, XP_047276013.1:p.Ser14Leu, XP_047276014.1:p.Ser14Leu

Select item 14803059419.

rs1480305941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:154969042 (GRCh38)
7:154760752 (GRCh37)
Canonical SPDI:: NC_000007.14:154969041:C:A
Gene:: PAXIP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.154969042C>A, NC_000007.13:g.154760752C>A, NG_023293.1:g.38931G>T, NM_007349.4:c.1159G>T, NM_007349.3:c.1159G>T, XM_011515982.4:c.1081G>T, XM_011515982.3:c.1081G>T, XM_011515982.2:c.1081G>T, XM_011515982.1:c.1081G>T, XM_047420059.1:c.418G>T, XM_047420057.1:c.1057G>T, XM_047420058.1:c.1018G>T, NP_031375.3:p.Val387Leu, XP_011514284.1:p.Val361Leu, XP_047276015.1:p.Val140Leu, XP_047276013.1:p.Val353Leu, XP_047276014.1:p.Val340Leu

Select item 147960945910.

rs1479609459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:155002908 (GRCh38)
7:154794618 (GRCh37)
Canonical SPDI:: NC_000007.14:155002907:C:A
Gene:: PAXIP1 (Varview), PAXIP1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.155002908C>A, NC_000007.13:g.154794618C>A, NG_023293.1:g.5065G>T, NM_007349.4:c.22G>T, NM_007349.3:c.22G>T, NP_031375.3:p.Val8Phe