SNP Links for Protein (Select 31542741) - SNP

Links from Protein

Items: 1 to 20 of 295

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Select item 14914514111.

rs1491451411 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:224401507 (GRCh38)
2:225266224 (GRCh37)
Canonical SPDI:: NC_000002.12:224401501:GAGAGAG:GAGAG
Gene:: FAM124B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.224401503AG[2], NC_000002.11:g.225266220AG[2], NM_024785.3:c.266_267del, NM_024785.2:c.266_267del, NM_001122779.2:c.266_267del, NM_001122779.1:c.266_267del, XM_047445888.1:c.266_267del, NP_079061.2:p.Leu89fs, NP_001116251.1:p.Leu89fs, XP_047301844.1:p.Leu89fs

Select item 14880218412.

rs1488021841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:224401296 (GRCh38)
2:225266013 (GRCh37)
Canonical SPDI:: NC_000002.12:224401295:A:G
Gene:: FAM124B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00003/1 (ALFA)
HGVS:: NC_000002.12:g.224401296A>G, NC_000002.11:g.225266013A>G, NM_024785.3:c.473T>C, NM_024785.2:c.473T>C, NM_001122779.2:c.473T>C, NM_001122779.1:c.473T>C, XM_047445888.1:c.473T>C, NP_079061.2:p.Met158Thr, NP_001116251.1:p.Met158Thr, XP_047301844.1:p.Met158Thr

Select item 14868739073.

rs1486873907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:224401153 (GRCh38)
2:225265870 (GRCh37)
Canonical SPDI:: NC_000002.12:224401152:G:A
Gene:: FAM124B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.224401153G>A, NC_000002.11:g.225265870G>A, NM_024785.3:c.616C>T, NM_024785.2:c.616C>T, NM_001122779.2:c.616C>T, NM_001122779.1:c.616C>T, XM_047445888.1:c.616C>T, NP_079061.2:p.Gln206Ter, NP_001116251.1:p.Gln206Ter, XP_047301844.1:p.Gln206Ter

Select item 14865084734.

rs1486508473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:224401063 (GRCh38)
2:225265780 (GRCh37)
Canonical SPDI:: NC_000002.12:224401062:A:T
Gene:: FAM124B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.224401063A>T, NC_000002.11:g.225265780A>T, NM_024785.3:c.706T>A, NM_024785.2:c.706T>A, NM_001122779.2:c.706T>A, NM_001122779.1:c.706T>A, XM_047445888.1:c.706T>A, NP_079061.2:p.Tyr236Asn, NP_001116251.1:p.Tyr236Asn, XP_047301844.1:p.Tyr236Asn

Select item 14763553525.

rs1476355352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:224401071 (GRCh38)
2:225265788 (GRCh37)
Canonical SPDI:: NC_000002.12:224401070:G:A
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.224401071G>A, NC_000002.11:g.225265788G>A, NM_024785.3:c.698C>T, NM_024785.2:c.698C>T, NM_001122779.2:c.698C>T, NM_001122779.1:c.698C>T, XM_047445888.1:c.698C>T, NP_079061.2:p.Thr233Ile, NP_001116251.1:p.Thr233Ile, XP_047301844.1:p.Thr233Ile

Select item 14734970936.

rs1473497093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:224401718 (GRCh38)
2:225266435 (GRCh37)
Canonical SPDI:: NC_000002.12:224401717:G:T
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000002.12:g.224401718G>T, NC_000002.11:g.225266435G>T, NM_024785.3:c.51C>A, NM_024785.2:c.51C>A, NM_001122779.2:c.51C>A, NM_001122779.1:c.51C>A, XM_047445888.1:c.51C>A, NP_079061.2:p.Asn17Lys, NP_001116251.1:p.Asn17Lys, XP_047301844.1:p.Asn17Lys

Select item 14729100467.

rs1472910046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:224401259 (GRCh38)
2:225265976 (GRCh37)
Canonical SPDI:: NC_000002.12:224401258:A:G
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.224401259A>G, NC_000002.11:g.225265976A>G, NM_024785.3:c.510T>C, NM_024785.2:c.510T>C, NM_001122779.2:c.510T>C, NM_001122779.1:c.510T>C, XM_047445888.1:c.510T>C

Select item 14686497988.

rs1468649798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:224401154 (GRCh38)
2:225265871 (GRCh37)
Canonical SPDI:: NC_000002.12:224401153:C:A
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.224401154C>A, NC_000002.11:g.225265871C>A, NM_024785.3:c.615G>T, NM_024785.2:c.615G>T, NM_001122779.2:c.615G>T, NM_001122779.1:c.615G>T, XM_047445888.1:c.615G>T

Select item 14676639039.

rs1467663903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:224401260 (GRCh38)
2:225265977 (GRCh37)
Canonical SPDI:: NC_000002.12:224401259:T:C
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.224401260T>C, NC_000002.11:g.225265977T>C, NM_024785.3:c.509A>G, NM_024785.2:c.509A>G, NM_001122779.2:c.509A>G, NM_001122779.1:c.509A>G, XM_047445888.1:c.509A>G, NP_079061.2:p.Asn170Ser, NP_001116251.1:p.Asn170Ser, XP_047301844.1:p.Asn170Ser

Select item 146198577210.

rs1461985772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:224401363 (GRCh38)
2:225266080 (GRCh37)
Canonical SPDI:: NC_000002.12:224401362:C:T
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.224401363C>T, NC_000002.11:g.225266080C>T, NM_024785.3:c.406G>A, NM_024785.2:c.406G>A, NM_001122779.2:c.406G>A, NM_001122779.1:c.406G>A, XM_047445888.1:c.406G>A, NP_079061.2:p.Glu136Lys, NP_001116251.1:p.Glu136Lys, XP_047301844.1:p.Glu136Lys

Select item 146118049711.

rs1461180497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:224401354 (GRCh38)
2:225266071 (GRCh37)
Canonical SPDI:: NC_000002.12:224401353:T:C
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.224401354T>C, NC_000002.11:g.225266071T>C, NM_024785.3:c.415A>G, NM_024785.2:c.415A>G, NM_001122779.2:c.415A>G, NM_001122779.1:c.415A>G, XM_047445888.1:c.415A>G, NP_079061.2:p.Arg139Gly, NP_001116251.1:p.Arg139Gly, XP_047301844.1:p.Arg139Gly

Select item 145886015212.

rs1458860152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:224401370 (GRCh38)
2:225266087 (GRCh37)
Canonical SPDI:: NC_000002.12:224401369:A:T
Gene:: FAM124B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.224401370A>T, NC_000002.11:g.225266087A>T, NM_024785.3:c.399T>A, NM_024785.2:c.399T>A, NM_001122779.2:c.399T>A, NM_001122779.1:c.399T>A, XM_047445888.1:c.399T>A, NP_079061.2:p.Cys133Ter, NP_001116251.1:p.Cys133Ter, XP_047301844.1:p.Cys133Ter

Select item 145769490813.

rs1457694908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:224401230 (GRCh38)
2:225265947 (GRCh37)
Canonical SPDI:: NC_000002.12:224401229:T:C,NC_000002.12:224401229:T:G
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.224401230T>C, NC_000002.12:g.224401230T>G, NC_000002.11:g.225265947T>C, NC_000002.11:g.225265947T>G, NM_024785.3:c.539A>G, NM_024785.3:c.539A>C, NM_024785.2:c.539A>G, NM_024785.2:c.539A>C, NM_001122779.2:c.539A>G, NM_001122779.2:c.539A>C, NM_001122779.1:c.539A>G, NM_001122779.1:c.539A>C, XM_047445888.1:c.539A>G, XM_047445888.1:c.539A>C, NP_079061.2:p.Lys180Arg, NP_079061.2:p.Lys180Thr, NP_001116251.1:p.Lys180Arg, NP_001116251.1:p.Lys180Thr, XP_047301844.1:p.Lys180Arg, XP_047301844.1:p.Lys180Thr

Select item 145470310514.

rs1454703105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:224401272 (GRCh38)
2:225265989 (GRCh37)
Canonical SPDI:: NC_000002.12:224401271:A:G
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.224401272A>G, NC_000002.11:g.225265989A>G, NM_024785.3:c.497T>C, NM_024785.2:c.497T>C, NM_001122779.2:c.497T>C, NM_001122779.1:c.497T>C, XM_047445888.1:c.497T>C, NP_079061.2:p.Leu166Ser, NP_001116251.1:p.Leu166Ser, XP_047301844.1:p.Leu166Ser

Select item 145318351515.

rs1453183515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:224401545 (GRCh38)
2:225266262 (GRCh37)
Canonical SPDI:: NC_000002.12:224401544:T:C
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.224401545T>C, NC_000002.11:g.225266262T>C, NM_024785.3:c.224A>G, NM_024785.2:c.224A>G, NM_001122779.2:c.224A>G, NM_001122779.1:c.224A>G, XM_047445888.1:c.224A>G, NP_079061.2:p.Glu75Gly, NP_001116251.1:p.Glu75Gly, XP_047301844.1:p.Glu75Gly

Select item 145259244216.

rs1452592442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:224400437 (GRCh38)
2:225265154 (GRCh37)
Canonical SPDI:: NC_000002.12:224400436:T:C
Gene:: FAM124B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.224400437T>C, NC_000002.11:g.225265154T>C, NM_024785.3:c.801A>G, NM_024785.2:c.801A>G, XM_047445888.1:c.801A>G

Select item 144945172917.

rs1449451729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:224400501 (GRCh38)
2:225265218 (GRCh37)
Canonical SPDI:: NC_000002.12:224400500:C:T
Gene:: FAM124B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.224400501C>T, NC_000002.11:g.225265218C>T, NM_024785.3:c.737G>A, NM_024785.2:c.737G>A, XM_047445888.1:c.737G>A, NP_079061.2:p.Trp246Ter, XP_047301844.1:p.Trp246Ter

Select item 144871942718.

rs1448719427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:224401399 (GRCh38)
2:225266116 (GRCh37)
Canonical SPDI:: NC_000002.12:224401398:G:T
Gene:: FAM124B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.224401399G>T, NC_000002.11:g.225266116G>T, NM_024785.3:c.370C>A, NM_024785.2:c.370C>A, NM_001122779.2:c.370C>A, NM_001122779.1:c.370C>A, XM_047445888.1:c.370C>A, NP_079061.2:p.Pro124Thr, NP_001116251.1:p.Pro124Thr, XP_047301844.1:p.Pro124Thr

Select item 144741356019.

rs1447413560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:224401478 (GRCh38)
2:225266195 (GRCh37)
Canonical SPDI:: NC_000002.12:224401477:G:A
Gene:: FAM124B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.224401478G>A, NC_000002.11:g.225266195G>A, NM_024785.3:c.291C>T, NM_024785.2:c.291C>T, NM_001122779.2:c.291C>T, NM_001122779.1:c.291C>T, XM_047445888.1:c.291C>T

Select item 144037965620.

rs1440379656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:224401212 (GRCh38)
2:225265929 (GRCh37)
Canonical SPDI:: NC_000002.12:224401211:A:G
Gene:: FAM124B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.224401212A>G, NC_000002.11:g.225265929A>G, NM_024785.3:c.557T>C, NM_024785.2:c.557T>C, NM_001122779.2:c.557T>C, NM_001122779.1:c.557T>C, XM_047445888.1:c.557T>C, NP_079061.2:p.Leu186Pro, NP_001116251.1:p.Leu186Pro, XP_047301844.1:p.Leu186Pro

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