SNP Links for Protein (Select 1034561345) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153149946 (GRCh38)
1:153122422 (GRCh37)
Canonical SPDI:: NC_000001.11:153149945:G:A
Gene:: SPRR2G (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_000001.11:g.153149946G>A, NC_000001.10:g.153122422G>A, NM_001014291.4:c.165C>T, NM_001014291.3:c.165C>T, XM_017002177.2:c.165C>T, XM_017002177.1:c.165C>T, XM_017002178.2:c.165C>T, XM_017002178.1:c.165C>T

Select item 131734535515.

rs1317345355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:153149895 (GRCh38)
1:153122371 (GRCh37)
Canonical SPDI:: NC_000001.11:153149894:G:C,NC_000001.11:153149894:G:T
Gene:: SPRR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.153149895G>C, NC_000001.11:g.153149895G>T, NC_000001.10:g.153122371G>C, NC_000001.10:g.153122371G>T, NM_001014291.4:c.216C>G, NM_001014291.4:c.216C>A, NM_001014291.3:c.216C>G, NM_001014291.3:c.216C>A, XM_017002177.2:c.216C>G, XM_017002177.2:c.216C>A, XM_017002177.1:c.216C>G, XM_017002177.1:c.216C>A, XM_017002178.2:c.216C>G, XM_017002178.2:c.216C>A, XM_017002178.1:c.216C>G, XM_017002178.1:c.216C>A, NP_001014313.1:p.Ser72Arg, NP_001014313.1:p.Ser72Arg, XP_016857666.1:p.Ser72Arg, XP_016857666.1:p.Ser72Arg, XP_016857667.1:p.Ser72Arg, XP_016857667.1:p.Ser72Arg

Select item 131407054816.

rs1314070548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:153149902 (GRCh38)
1:153122378 (GRCh37)
Canonical SPDI:: NC_000001.11:153149901:G:C
Gene:: SPRR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153149902G>C, NC_000001.10:g.153122378G>C, NM_001014291.4:c.209C>G, NM_001014291.3:c.209C>G, XM_017002177.2:c.209C>G, XM_017002177.1:c.209C>G, XM_017002178.2:c.209C>G, XM_017002178.1:c.209C>G, NP_001014313.1:p.Pro70Arg, XP_016857666.1:p.Pro70Arg, XP_016857667.1:p.Pro70Arg

Select item 131127326217.

rs1311273262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153150038 (GRCh38)
1:153122514 (GRCh37)
Canonical SPDI:: NC_000001.11:153150037:C:T
Gene:: SPRR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153150038C>T, NC_000001.10:g.153122514C>T, NM_001014291.4:c.73G>A, NM_001014291.3:c.73G>A, XM_017002177.2:c.73G>A, XM_017002177.1:c.73G>A, XM_017002178.2:c.73G>A, XM_017002178.1:c.73G>A, NP_001014313.1:p.Glu25Lys, XP_016857666.1:p.Glu25Lys, XP_016857667.1:p.Glu25Lys

Select item 130470744318.

rs1304707443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:153150048 (GRCh38)
1:153122524 (GRCh37)
Canonical SPDI:: NC_000001.11:153150047:T:G
Gene:: SPRR2G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153150048T>G, NC_000001.10:g.153122524T>G, NM_001014291.4:c.63A>C, NM_001014291.3:c.63A>C, XM_017002177.2:c.63A>C, XM_017002177.1:c.63A>C, XM_017002178.2:c.63A>C, XM_017002178.1:c.63A>C

Select item 130439468519.

rs1304394685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153150067 (GRCh38)
1:153122543 (GRCh37)
Canonical SPDI:: NC_000001.11:153150066:G:A
Gene:: SPRR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.153150067G>A, NC_000001.10:g.153122543G>A, NM_001014291.4:c.44C>T, NM_001014291.3:c.44C>T, XM_017002177.2:c.44C>T, XM_017002177.1:c.44C>T, XM_017002178.2:c.44C>T, XM_017002178.1:c.44C>T, NP_001014313.1:p.Pro15Leu, XP_016857666.1:p.Pro15Leu, XP_016857667.1:p.Pro15Leu

Select item 130120495120.

rs1301204951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153150002 (GRCh38)
1:153122478 (GRCh37)
Canonical SPDI:: NC_000001.11:153150001:G:A
Gene:: SPRR2G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.153150002G>A, NC_000001.10:g.153122478G>A, NM_001014291.4:c.109C>T, NM_001014291.3:c.109C>T, XM_017002177.2:c.109C>T, XM_017002177.1:c.109C>T, XM_017002178.2:c.109C>T, XM_017002178.1:c.109C>T

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