SNP Links for Protein (Select 134152672) - SNP

Links from Protein

Items: 1 to 20 of 330

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Select item 14872674521.

rs1487267452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:1312743 (GRCh38)
20:1293387 (GRCh37)
Canonical SPDI:: NC_000020.11:1312742:A:G
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000020.11:g.1312743A>G, NC_000020.10:g.1293387A>G, NG_029926.2:g.21493T>C, NM_015685.6:c.149T>C, NM_015685.5:c.149T>C, NM_080489.5:c.404T>C, NM_080489.4:c.404T>C, NM_001199784.2:c.404T>C, NM_001199784.1:c.404T>C, NR_037661.1:n.682T>C, NP_056500.2:p.Val50Ala, NP_536737.3:p.Val135Ala, NP_001186713.1:p.Val135Ala

Select item 14869752512.

rs1486975251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1312450 (GRCh38)
20:1293094 (GRCh37)
Canonical SPDI:: NC_000020.11:1312449:T:C
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1312450T>C, NC_000020.10:g.1293094T>C, NG_029926.2:g.21786A>G, NM_015685.6:c.364A>G, NM_015685.5:c.364A>G, NM_080489.5:c.619A>G, NM_080489.4:c.619A>G, NM_001199784.2:c.619A>G, NM_001199784.1:c.619A>G, NR_037661.1:n.897A>G, NP_056500.2:p.Ile122Val, NP_536737.3:p.Ile207Val, NP_001186713.1:p.Ile207Val

Select item 14850066523.

rs1485006652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1312367 (GRCh38)
20:1293011 (GRCh37)
Canonical SPDI:: NC_000020.11:1312366:C:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.1312367C>T, NC_000020.10:g.1293011C>T, NG_029926.2:g.21869G>A, NM_015685.6:c.447G>A, NM_015685.5:c.447G>A, NM_080489.5:c.702G>A, NM_080489.4:c.702G>A, NM_001199784.2:c.702G>A, NM_001199784.1:c.702G>A, NR_037661.1:n.980G>A

Select item 14836115254.

rs1483611525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:1320408 (GRCh38)
20:1301052 (GRCh37)
Canonical SPDI:: NC_000020.11:1320407:G:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview), LOC124904856 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1320408G>T, NC_000020.10:g.1301052G>T, NG_029926.2:g.13828C>A, NM_080489.5:c.9C>A, NM_080489.4:c.9C>A, NM_001199784.2:c.9C>A, NM_001199784.1:c.9C>A, NR_037661.1:n.287C>A

Select item 14829563165.

rs1482956316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1310891 (GRCh38)
20:1291535 (GRCh37)
Canonical SPDI:: NC_000020.11:1310890:C:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000020.11:g.1310891C>T, NC_000020.10:g.1291535C>T, NG_029926.2:g.23345G>A, NM_015685.6:c.478G>A, NM_015685.5:c.478G>A, NM_080489.5:c.733G>A, NM_080489.4:c.733G>A, NM_001199784.2:c.733G>A, NM_001199784.1:c.733G>A, NR_037661.1:n.1011G>A, NP_056500.2:p.Asp160Asn, NP_536737.3:p.Asp245Asn, NP_001186713.1:p.Asp245Asn

Select item 14790518186.

rs1479051818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1310459 (GRCh38)
20:1291103 (GRCh37)
Canonical SPDI:: NC_000020.11:1310458:G:A
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1310459G>A, NC_000020.10:g.1291103G>A, NG_029926.2:g.23777C>T, NM_015685.6:c.606C>T, NM_015685.5:c.606C>T, NM_080489.5:c.861C>T, NM_080489.4:c.861C>T, NM_001199784.2:c.861C>T, NM_001199784.1:c.861C>T, NR_037661.1:n.1139C>T

Select item 14745367857.

rs1474536785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1312722 (GRCh38)
20:1293366 (GRCh37)
Canonical SPDI:: NC_000020.11:1312721:G:A
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1312722G>A, NC_000020.10:g.1293366G>A, NG_029926.2:g.21514C>T, NM_015685.6:c.170C>T, NM_015685.5:c.170C>T, NM_080489.5:c.425C>T, NM_080489.4:c.425C>T, NM_001199784.2:c.425C>T, NM_001199784.1:c.425C>T, NR_037661.1:n.703C>T, NP_056500.2:p.Ser57Phe, NP_536737.3:p.Ser142Phe, NP_001186713.1:p.Ser142Phe

Select item 14744389148.

rs1474438914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1313463 (GRCh38)
20:1294107 (GRCh37)
Canonical SPDI:: NC_000020.11:1313462:C:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1313463C>T, NC_000020.10:g.1294107C>T, NG_029926.2:g.20773G>A, NM_015685.6:c.6G>A, NM_015685.5:c.6G>A, NM_080489.5:c.261G>A, NM_080489.4:c.261G>A, NM_001199784.2:c.261G>A, NM_001199784.1:c.261G>A, NR_037661.1:n.539G>A

Select item 14699845639.

rs1469984563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1320402 (GRCh38)
20:1301046 (GRCh37)
Canonical SPDI:: NC_000020.11:1320401:G:A
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview), LOC124904856 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1320402G>A, NC_000020.10:g.1301046G>A, NG_029926.2:g.13834C>T, NM_080489.5:c.15C>T, NM_080489.4:c.15C>T, NM_001199784.2:c.15C>T, NM_001199784.1:c.15C>T, NR_037661.1:n.293C>T

Select item 146738265410.

rs1467382654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:1312635 (GRCh38)
20:1293279 (GRCh37)
Canonical SPDI:: NC_000020.11:1312634:A:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.1312635A>T, NC_000020.10:g.1293279A>T, NG_029926.2:g.21601T>A, NM_015685.6:c.257T>A, NM_015685.5:c.257T>A, NM_080489.5:c.512T>A, NM_080489.4:c.512T>A, NM_001199784.2:c.512T>A, NM_001199784.1:c.512T>A, NR_037661.1:n.790T>A, NP_056500.2:p.Val86Glu, NP_536737.3:p.Val171Glu, NP_001186713.1:p.Val171Glu

Select item 146669964911.

rs1466699649 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:1312728 (GRCh38)
20:1293372 (GRCh37)
Canonical SPDI:: NC_000020.11:1312727:GGGG:GGG
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1312731del, NC_000020.10:g.1293375del, NG_029926.2:g.21508del, NM_015685.6:c.164del, NM_015685.5:c.164del, NM_080489.5:c.419del, NM_080489.4:c.419del, NM_001199784.2:c.419del, NM_001199784.1:c.419del, NR_037661.1:n.697del, NP_056500.2:p.Pro55fs, NP_536737.3:p.Pro140fs, NP_001186713.1:p.Pro140fs

Select item 145824933212.

rs1458249332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:1312710 (GRCh38)
20:1293354 (GRCh37)
Canonical SPDI:: NC_000020.11:1312709:A:C
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1312710A>C, NC_000020.10:g.1293354A>C, NG_029926.2:g.21526T>G, NM_015685.6:c.182T>G, NM_015685.5:c.182T>G, NM_080489.5:c.437T>G, NM_080489.4:c.437T>G, NM_001199784.2:c.437T>G, NM_001199784.1:c.437T>G, NR_037661.1:n.715T>G, NP_056500.2:p.Leu61Arg, NP_536737.3:p.Leu146Arg, NP_001186713.1:p.Leu146Arg

Select item 145734507913.

rs1457345079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:1310858 (GRCh38)
20:1291502 (GRCh37)
Canonical SPDI:: NC_000020.11:1310857:C:A
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1310858C>A, NC_000020.10:g.1291502C>A, NG_029926.2:g.23378G>T, NM_015685.6:c.511G>T, NM_015685.5:c.511G>T, NM_080489.5:c.766G>T, NM_080489.4:c.766G>T, NM_001199784.2:c.766G>T, NM_001199784.1:c.766G>T, NR_037661.1:n.1044G>T, NP_056500.2:p.Gly171Trp, NP_536737.3:p.Gly256Trp, NP_001186713.1:p.Gly256Trp

Select item 145573622714.

rs1455736227 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGGGCCC>- [Show Flanks]
Chromosome:: 20:1313480 (GRCh38)
20:1294124 (GRCh37)
Canonical SPDI:: NC_000020.11:1313477:CCCGGGGCCC:CC
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.000005/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1313480_1313487del, NC_000020.10:g.1294124_1294131del, NG_029926.2:g.20751_20758del, NM_015685.6:c.-17_-10del, NM_015685.5:c.-17_-10del, NM_080489.5:c.239_246del, NM_080489.4:c.239_246del, NM_001199784.2:c.239_246del, NM_001199784.1:c.239_246del, NR_037661.1:n.517_524del, NP_536737.3:p.Gly80fs, NP_001186713.1:p.Gly80fs

Select item 145401397715.

rs1454013977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1312398 (GRCh38)
20:1293042 (GRCh37)
Canonical SPDI:: NC_000020.11:1312397:T:C
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1312398T>C, NC_000020.10:g.1293042T>C, NG_029926.2:g.21838A>G, NM_015685.6:c.416A>G, NM_015685.5:c.416A>G, NM_080489.5:c.671A>G, NM_080489.4:c.671A>G, NM_001199784.2:c.671A>G, NM_001199784.1:c.671A>G, NR_037661.1:n.949A>G, NP_056500.2:p.Asn139Ser, NP_536737.3:p.Asn224Ser, NP_001186713.1:p.Asn224Ser

Select item 145352963016.

rs1453529630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1318321 (GRCh38)
20:1298965 (GRCh37)
Canonical SPDI:: NC_000020.11:1318320:G:A
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.1318321G>A, NC_000020.10:g.1298965G>A, NG_029926.2:g.15915C>T, NM_080489.5:c.222C>T, NM_080489.4:c.222C>T, NM_001199784.2:c.222C>T, NM_001199784.1:c.222C>T, NR_037661.1:n.500C>T

Select item 144860259117.

rs1448602591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1312684 (GRCh38)
20:1293328 (GRCh37)
Canonical SPDI:: NC_000020.11:1312683:T:C
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1312684T>C, NC_000020.10:g.1293328T>C, NG_029926.2:g.21552A>G, NM_015685.6:c.208A>G, NM_015685.5:c.208A>G, NM_080489.5:c.463A>G, NM_080489.4:c.463A>G, NM_001199784.2:c.463A>G, NM_001199784.1:c.463A>G, NR_037661.1:n.741A>G, NP_056500.2:p.Ile70Val, NP_536737.3:p.Ile155Val, NP_001186713.1:p.Ile155Val

Select item 144194777318.

rs1441947773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:1318348 (GRCh38)
20:1298992 (GRCh37)
Canonical SPDI:: NC_000020.11:1318347:C:G,NC_000020.11:1318347:C:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000020.11:g.1318348C>G, NC_000020.11:g.1318348C>T, NC_000020.10:g.1298992C>G, NC_000020.10:g.1298992C>T, NG_029926.2:g.15888G>C, NG_029926.2:g.15888G>A, NM_080489.5:c.195G>C, NM_080489.5:c.195G>A, NM_080489.4:c.195G>C, NM_080489.4:c.195G>A, NM_001199784.2:c.195G>C, NM_001199784.2:c.195G>A, NM_001199784.1:c.195G>C, NM_001199784.1:c.195G>A, NR_037661.1:n.473G>C, NR_037661.1:n.473G>A, NP_536737.3:p.Glu65Asp, NP_001186713.1:p.Glu65Asp

Select item 144105782019.

rs1441057820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1310862 (GRCh38)
20:1291506 (GRCh37)
Canonical SPDI:: NC_000020.11:1310861:C:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.1310862C>T, NC_000020.10:g.1291506C>T, NG_029926.2:g.23374G>A, NM_015685.6:c.507G>A, NM_015685.5:c.507G>A, NM_080489.5:c.762G>A, NM_080489.4:c.762G>A, NM_001199784.2:c.762G>A, NM_001199784.1:c.762G>A, NR_037661.1:n.1040G>A

Select item 143690091720.

rs1436900917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1313435 (GRCh38)
20:1294079 (GRCh37)
Canonical SPDI:: NC_000020.11:1313434:C:T
Gene:: SDCBP2 (Varview), FKBP1A-SDCBP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1313435C>T, NC_000020.10:g.1294079C>T, NG_029926.2:g.20801G>A, NM_015685.6:c.34G>A, NM_015685.5:c.34G>A, NM_080489.5:c.289G>A, NM_080489.4:c.289G>A, NM_001199784.2:c.289G>A, NM_001199784.1:c.289G>A, NR_037661.1:n.567G>A, NP_056500.2:p.Val12Met, NP_536737.3:p.Val97Met, NP_001186713.1:p.Val97Met

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