SNP Links for Protein (Select 5174487) - SNP

Links from Protein

Items: 1 to 20 of 545

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Select item 14897349951.

rs1489734995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:49906432 (GRCh38)
20:48522969 (GRCh37)
Canonical SPDI:: NC_000020.11:49906431:G:A
Gene:: SPATA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49906432G>A, NC_000020.10:g.48522969G>A, NM_006038.4:c.750C>T, NM_006038.3:c.750C>T, XM_006723894.2:c.750C>T, XM_006723894.1:c.750C>T, NM_001135773.2:c.750C>T, NM_001135773.1:c.750C>T, XM_047440623.1:c.750C>T, XM_047440624.1:c.750C>T

Select item 14897108402.

rs1489710840 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATCCACTTTG>- [Show Flanks]
Chromosome:: 20:49908405 (GRCh38)
20:48524942 (GRCh37)
Canonical SPDI:: NC_000020.11:49908402:TGGTATCCACTTTG:TG
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.49908405_49908416del, NC_000020.10:g.48524942_48524953del, NM_006038.4:c.77_88del, NM_006038.3:c.77_88del, XM_006723894.2:c.77_88del, XM_006723894.1:c.77_88del, NM_001135773.2:c.77_88del, NM_001135773.1:c.77_88del, XM_047440623.1:c.77_88del, XM_047440624.1:c.77_88del, NP_006029.1:p.Lys26_Thr29del, XP_006723957.1:p.Lys26_Thr29del, NP_001129245.1:p.Lys26_Thr29del, XP_047296579.1:p.Lys26_Thr29del, XP_047296580.1:p.Lys26_Thr29del

Select item 14896105203.

rs1489610520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:49906161 (GRCh38)
20:48522698 (GRCh37)
Canonical SPDI:: NC_000020.11:49906160:A:G
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.49906161A>G, NC_000020.10:g.48522698A>G, NM_006038.4:c.1021T>C, NM_006038.3:c.1021T>C, XM_006723894.2:c.1021T>C, XM_006723894.1:c.1021T>C, NM_001135773.2:c.1021T>C, NM_001135773.1:c.1021T>C, XM_047440623.1:c.1021T>C, XM_047440624.1:c.1021T>C, NP_006029.1:p.Ser341Pro, XP_006723957.1:p.Ser341Pro, NP_001129245.1:p.Ser341Pro, XP_047296579.1:p.Ser341Pro, XP_047296580.1:p.Ser341Pro

Select item 14841990474.

rs1484199047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:49905633 (GRCh38)
20:48522170 (GRCh37)
Canonical SPDI:: NC_000020.11:49905632:G:T
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49905633G>T, NC_000020.10:g.48522170G>T, NM_006038.4:c.1549C>A, NM_006038.3:c.1549C>A, XM_006723894.2:c.1549C>A, XM_006723894.1:c.1549C>A, NM_001135773.2:c.1549C>A, NM_001135773.1:c.1549C>A, XM_047440623.1:c.1549C>A, XM_047440624.1:c.1549C>A, NP_006029.1:p.Leu517Ile, XP_006723957.1:p.Leu517Ile, NP_001129245.1:p.Leu517Ile, XP_047296579.1:p.Leu517Ile, XP_047296580.1:p.Leu517Ile

Select item 14836837515.

rs1483683751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:49905967 (GRCh38)
20:48522504 (GRCh37)
Canonical SPDI:: NC_000020.11:49905966:A:G
Gene:: SPATA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.49905967A>G, NC_000020.10:g.48522504A>G, NM_006038.4:c.1215T>C, NM_006038.3:c.1215T>C, XM_006723894.2:c.1215T>C, XM_006723894.1:c.1215T>C, NM_001135773.2:c.1215T>C, NM_001135773.1:c.1215T>C, XM_047440623.1:c.1215T>C, XM_047440624.1:c.1215T>C

Select item 14830321546.

rs1483032154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:49906504 (GRCh38)
20:48523041 (GRCh37)
Canonical SPDI:: NC_000020.11:49906503:T:A
Gene:: SPATA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.49906504T>A, NC_000020.10:g.48523041T>A, NM_006038.4:c.678A>T, NM_006038.3:c.678A>T, XM_006723894.2:c.678A>T, XM_006723894.1:c.678A>T, NM_001135773.2:c.678A>T, NM_001135773.1:c.678A>T, XM_047440623.1:c.678A>T, XM_047440624.1:c.678A>T

Select item 14801526337.

rs1480152633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49905822 (GRCh38)
20:48522359 (GRCh37)
Canonical SPDI:: NC_000020.11:49905821:T:C
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.49905822T>C, NC_000020.10:g.48522359T>C, NM_006038.4:c.1360A>G, NM_006038.3:c.1360A>G, XM_006723894.2:c.1360A>G, XM_006723894.1:c.1360A>G, NM_001135773.2:c.1360A>G, NM_001135773.1:c.1360A>G, XM_047440623.1:c.1360A>G, XM_047440624.1:c.1360A>G, NP_006029.1:p.Thr454Ala, XP_006723957.1:p.Thr454Ala, NP_001129245.1:p.Thr454Ala, XP_047296579.1:p.Thr454Ala, XP_047296580.1:p.Thr454Ala

Select item 14791898738.

rs1479189873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49908223 (GRCh38)
20:48524760 (GRCh37)
Canonical SPDI:: NC_000020.11:49908222:T:C
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.49908223T>C, NC_000020.10:g.48524760T>C, NM_006038.4:c.268A>G, NM_006038.3:c.268A>G, XM_006723894.2:c.268A>G, XM_006723894.1:c.268A>G, NM_001135773.2:c.268A>G, NM_001135773.1:c.268A>G, XM_047440623.1:c.268A>G, XM_047440624.1:c.268A>G, NP_006029.1:p.Ser90Gly, XP_006723957.1:p.Ser90Gly, NP_001129245.1:p.Ser90Gly, XP_047296579.1:p.Ser90Gly, XP_047296580.1:p.Ser90Gly

Select item 14761878289.

rs1476187828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:49908326 (GRCh38)
20:48524863 (GRCh37)
Canonical SPDI:: NC_000020.11:49908325:C:T
Gene:: SPATA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.49908326C>T, NC_000020.10:g.48524863C>T, NM_006038.4:c.165G>A, NM_006038.3:c.165G>A, XM_006723894.2:c.165G>A, XM_006723894.1:c.165G>A, NM_001135773.2:c.165G>A, NM_001135773.1:c.165G>A, XM_047440623.1:c.165G>A, XM_047440624.1:c.165G>A

Select item 147365704410.

rs1473657044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49906184 (GRCh38)
20:48522721 (GRCh37)
Canonical SPDI:: NC_000020.11:49906183:T:C
Gene:: SPATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.49906184T>C, NC_000020.10:g.48522721T>C, NM_006038.4:c.998A>G, NM_006038.3:c.998A>G, XM_006723894.2:c.998A>G, XM_006723894.1:c.998A>G, NM_001135773.2:c.998A>G, NM_001135773.1:c.998A>G, XM_047440623.1:c.998A>G, XM_047440624.1:c.998A>G, NP_006029.1:p.Asp333Gly, XP_006723957.1:p.Asp333Gly, NP_001129245.1:p.Asp333Gly, XP_047296579.1:p.Asp333Gly, XP_047296580.1:p.Asp333Gly

Select item 147269645211.

rs1472696452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49906115 (GRCh38)
20:48522652 (GRCh37)
Canonical SPDI:: NC_000020.11:49906114:T:C
Gene:: SPATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49906115T>C, NC_000020.10:g.48522652T>C, NM_006038.4:c.1067A>G, NM_006038.3:c.1067A>G, XM_006723894.2:c.1067A>G, XM_006723894.1:c.1067A>G, NM_001135773.2:c.1067A>G, NM_001135773.1:c.1067A>G, XM_047440623.1:c.1067A>G, XM_047440624.1:c.1067A>G, NP_006029.1:p.Asp356Gly, XP_006723957.1:p.Asp356Gly, NP_001129245.1:p.Asp356Gly, XP_047296579.1:p.Asp356Gly, XP_047296580.1:p.Asp356Gly

Select item 147174927012.

rs1471749270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:49908347 (GRCh38)
20:48524884 (GRCh37)
Canonical SPDI:: NC_000020.11:49908346:G:A
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49908347G>A, NC_000020.10:g.48524884G>A, NM_006038.4:c.144C>T, NM_006038.3:c.144C>T, XM_006723894.2:c.144C>T, XM_006723894.1:c.144C>T, NM_001135773.2:c.144C>T, NM_001135773.1:c.144C>T, XM_047440623.1:c.144C>T, XM_047440624.1:c.144C>T

Select item 146309726513.

rs1463097265 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCCACTTTGCT [Show Flanks]
Chromosome:: 20:49908405 (GRCh38)
20:48524943 (GRCh37)
Canonical SPDI:: NC_000020.11:49908405:TATCCACTTTGCT:TATCCACTTTGCTATCCACTTTGCT
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TATCCACTTTGCTATCCACTTTGCT=0./0 (ALFA)
TATCCACTTTGC=0.000008/2 (TOPMED)
TATCCACTTTGC=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.49908407_49908418dup, NC_000020.10:g.48524944_48524955dup, NM_006038.4:c.74_85dup, NM_006038.3:c.74_85dup, XM_006723894.2:c.74_85dup, XM_006723894.1:c.74_85dup, NM_001135773.2:c.74_85dup, NM_001135773.1:c.74_85dup, XM_047440623.1:c.74_85dup, XM_047440624.1:c.74_85dup, NP_006029.1:p.Ser25_Asp28dup, XP_006723957.1:p.Ser25_Asp28dup, NP_001129245.1:p.Ser25_Asp28dup, XP_047296579.1:p.Ser25_Asp28dup, XP_047296580.1:p.Ser25_Asp28dup

Select item 146113873514.

rs1461138735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:49905800 (GRCh38)
20:48522337 (GRCh37)
Canonical SPDI:: NC_000020.11:49905799:C:T
Gene:: SPATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.49905800C>T, NC_000020.10:g.48522337C>T, NM_006038.4:c.1382G>A, NM_006038.3:c.1382G>A, XM_006723894.2:c.1382G>A, XM_006723894.1:c.1382G>A, NM_001135773.2:c.1382G>A, NM_001135773.1:c.1382G>A, XM_047440623.1:c.1382G>A, XM_047440624.1:c.1382G>A, NP_006029.1:p.Gly461Asp, XP_006723957.1:p.Gly461Asp, NP_001129245.1:p.Gly461Asp, XP_047296579.1:p.Gly461Asp, XP_047296580.1:p.Gly461Asp

Select item 146091536115.

rs1460915361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:49908304 (GRCh38)
20:48524841 (GRCh37)
Canonical SPDI:: NC_000020.11:49908303:G:A
Gene:: SPATA2 (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_000020.11:g.49908304G>A, NC_000020.10:g.48524841G>A, NM_006038.4:c.187C>T, NM_006038.3:c.187C>T, XM_006723894.2:c.187C>T, XM_006723894.1:c.187C>T, NM_001135773.2:c.187C>T, NM_001135773.1:c.187C>T, XM_047440623.1:c.187C>T, XM_047440624.1:c.187C>T

Select item 146066881216.

rs1460668812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49906369 (GRCh38)
20:48522906 (GRCh37)
Canonical SPDI:: NC_000020.11:49906368:T:C
Gene:: SPATA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.49906369T>C, NC_000020.10:g.48522906T>C, NM_006038.4:c.813A>G, NM_006038.3:c.813A>G, XM_006723894.2:c.813A>G, XM_006723894.1:c.813A>G, NM_001135773.2:c.813A>G, NM_001135773.1:c.813A>G, XM_047440623.1:c.813A>G, XM_047440624.1:c.813A>G

Select item 145832911417.

rs1458329114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49906454 (GRCh38)
20:48522991 (GRCh37)
Canonical SPDI:: NC_000020.11:49906453:T:C
Gene:: SPATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49906454T>C, NC_000020.10:g.48522991T>C, NM_006038.4:c.728A>G, NM_006038.3:c.728A>G, XM_006723894.2:c.728A>G, XM_006723894.1:c.728A>G, NM_001135773.2:c.728A>G, NM_001135773.1:c.728A>G, XM_047440623.1:c.728A>G, XM_047440624.1:c.728A>G, NP_006029.1:p.Tyr243Cys, XP_006723957.1:p.Tyr243Cys, NP_001129245.1:p.Tyr243Cys, XP_047296579.1:p.Tyr243Cys, XP_047296580.1:p.Tyr243Cys

Select item 145333173618.

rs1453331736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49905668 (GRCh38)
20:48522205 (GRCh37)
Canonical SPDI:: NC_000020.11:49905667:T:C
Gene:: SPATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.49905668T>C, NC_000020.10:g.48522205T>C, NM_006038.4:c.1514A>G, NM_006038.3:c.1514A>G, XM_006723894.2:c.1514A>G, XM_006723894.1:c.1514A>G, NM_001135773.2:c.1514A>G, NM_001135773.1:c.1514A>G, XM_047440623.1:c.1514A>G, XM_047440624.1:c.1514A>G, NP_006029.1:p.Asn505Ser, XP_006723957.1:p.Asn505Ser, NP_001129245.1:p.Asn505Ser, XP_047296579.1:p.Asn505Ser, XP_047296580.1:p.Asn505Ser

Select item 145148138719.

rs1451481387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:49905978 (GRCh38)
20:48522515 (GRCh37)
Canonical SPDI:: NC_000020.11:49905977:G:A
Gene:: SPATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.49905978G>A, NC_000020.10:g.48522515G>A, NM_006038.4:c.1204C>T, NM_006038.3:c.1204C>T, XM_006723894.2:c.1204C>T, XM_006723894.1:c.1204C>T, NM_001135773.2:c.1204C>T, NM_001135773.1:c.1204C>T, XM_047440623.1:c.1204C>T, XM_047440624.1:c.1204C>T, NP_006029.1:p.Leu402Phe, XP_006723957.1:p.Leu402Phe, NP_001129245.1:p.Leu402Phe, XP_047296579.1:p.Leu402Phe, XP_047296580.1:p.Leu402Phe

Select item 145122952620.

rs1451229526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:49906569 (GRCh38)
20:48523106 (GRCh37)
Canonical SPDI:: NC_000020.11:49906568:G:A
Gene:: SPATA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.49906569G>A, NC_000020.10:g.48523106G>A, NM_006038.4:c.613C>T, NM_006038.3:c.613C>T, XM_006723894.2:c.613C>T, XM_006723894.1:c.613C>T, NM_001135773.2:c.613C>T, NM_001135773.1:c.613C>T, XM_047440623.1:c.613C>T, XM_047440624.1:c.613C>T, NP_006029.1:p.Arg205Cys, XP_006723957.1:p.Arg205Cys, NP_001129245.1:p.Arg205Cys, XP_047296579.1:p.Arg205Cys, XP_047296580.1:p.Arg205Cys

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