SNP Links for Protein (Select 7661728) - SNP

Links from Protein

Items: 1 to 20 of 99

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Select item 14858140361.

rs1485814036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:156058356 (GRCh38)
1:156028147 (GRCh37)
Canonical SPDI:: NC_000001.11:156058355:A:C
Gene:: LAMTOR2 (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=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156058356A>C, NC_000001.10:g.156028147A>C, NG_009898.1:g.8631A>C, NM_014017.4:c.363A>C, NM_014017.3:c.363A>C, NM_001145264.2:c.273A>C, NM_001145264.1:c.273A>C, NP_054736.1:p.Gln121His, NP_001138736.1:p.Gln91His

Select item 14830083592.

rs1483008359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:156055424 (GRCh38)
1:156025215 (GRCh37)
Canonical SPDI:: NC_000001.11:156055423:T:G
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156055424T>G, NC_000001.10:g.156025215T>G, NG_009898.1:g.5699T>G, NM_014017.4:c.230T>G, NM_014017.3:c.230T>G, NM_001145264.2:c.230T>G, NM_001145264.1:c.230T>G, NP_054736.1:p.Met77Arg, NP_001138736.1:p.Met77Arg

Select item 14721787863.

rs1472178786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:156058363 (GRCh38)
1:156028154 (GRCh37)
Canonical SPDI:: NC_000001.11:156058362:G:T
Gene:: LAMTOR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.156058363G>T, NC_000001.10:g.156028154G>T, NG_009898.1:g.8638G>T, NM_014017.4:c.370G>T, NM_014017.3:c.370G>T, NM_001145264.2:c.280G>T, NM_001145264.1:c.280G>T, NP_054736.1:p.Ala124Ser, NP_001138736.1:p.Ala94Ser

Select item 14659712434.

rs1465971243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156055275 (GRCh38)
1:156025066 (GRCh37)
Canonical SPDI:: NC_000001.11:156055274:C:T
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156055275C>T, NC_000001.10:g.156025066C>T, NG_009898.1:g.5550C>T, NM_014017.4:c.81C>T, NM_014017.3:c.81C>T, NM_001145264.2:c.81C>T, NM_001145264.1:c.81C>T

Select item 14653841185.

rs1465384118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156055323 (GRCh38)
1:156025114 (GRCh37)
Canonical SPDI:: NC_000001.11:156055322:G:A
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156055323G>A, NC_000001.10:g.156025114G>A, NG_009898.1:g.5598G>A, NM_014017.4:c.129G>A, NM_014017.3:c.129G>A, NM_001145264.2:c.129G>A, NM_001145264.1:c.129G>A

Select item 14472071666.

rs1447207166 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:156058027 (GRCh38)
1:156027819 (GRCh37)
Canonical SPDI:: NC_000001.11:156058027:T:TT
Gene:: LAMTOR2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156058028dup, NC_000001.10:g.156027819dup, NG_009898.1:g.8303dup, NM_014017.4:c.282dup, NM_014017.3:c.282dup, NP_054736.1:p.Ala95fs

Select item 14399099877.

rs1439909987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:156058000 (GRCh38)
1:156027791 (GRCh37)
Canonical SPDI:: NC_000001.11:156057999:G:A,NC_000001.11:156057999:G:C,NC_000001.11:156057999:G:T
Gene:: LAMTOR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.156058000G>A, NC_000001.11:g.156058000G>C, NC_000001.11:g.156058000G>T, NC_000001.10:g.156027791G>A, NC_000001.10:g.156027791G>C, NC_000001.10:g.156027791G>T, NG_009898.1:g.8275G>A, NG_009898.1:g.8275G>C, NG_009898.1:g.8275G>T, NM_014017.4:c.254G>A, NM_014017.4:c.254G>C, NM_014017.4:c.254G>T, NM_014017.3:c.254G>A, NM_014017.3:c.254G>C, NM_014017.3:c.254G>T, NP_054736.1:p.Arg85Gln, NP_054736.1:p.Arg85Pro, NP_054736.1:p.Arg85Leu

Select item 14370843708.

rs1437084370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:156055379 (GRCh38)
1:156025170 (GRCh37)
Canonical SPDI:: NC_000001.11:156055378:A:T
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156055379A>T, NC_000001.10:g.156025170A>T, NG_009898.1:g.5654A>T, NM_014017.4:c.185A>T, NM_014017.3:c.185A>T, NM_001145264.2:c.185A>T, NM_001145264.1:c.185A>T, NP_054736.1:p.Gln62Leu, NP_001138736.1:p.Gln62Leu

Select item 14234853639.

rs1423485363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156055346 (GRCh38)
1:156025137 (GRCh37)
Canonical SPDI:: NC_000001.11:156055345:A:G
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156055346A>G, NC_000001.10:g.156025137A>G, NG_009898.1:g.5621A>G, NM_014017.4:c.152A>G, NM_014017.3:c.152A>G, NM_001145264.2:c.152A>G, NM_001145264.1:c.152A>G, NP_054736.1:p.Asn51Ser, NP_001138736.1:p.Asn51Ser

Select item 141696314310.

rs1416963143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156058331 (GRCh38)
1:156028122 (GRCh37)
Canonical SPDI:: NC_000001.11:156058330:A:G
Gene:: LAMTOR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156058331A>G, NC_000001.10:g.156028122A>G, NG_009898.1:g.8606A>G, NM_014017.4:c.338A>G, NM_014017.3:c.338A>G, NM_001145264.2:c.248A>G, NM_001145264.1:c.248A>G, NP_054736.1:p.Gln113Arg, NP_001138736.1:p.Gln83Arg

Select item 139510656211.

rs1395106562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:156055381 (GRCh38)
1:156025172 (GRCh37)
Canonical SPDI:: NC_000001.11:156055380:G:A,NC_000001.11:156055380:G:C
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156055381G>A, NC_000001.11:g.156055381G>C, NC_000001.10:g.156025172G>A, NC_000001.10:g.156025172G>C, NG_009898.1:g.5656G>A, NG_009898.1:g.5656G>C, NM_014017.4:c.187G>A, NM_014017.4:c.187G>C, NM_014017.3:c.187G>A, NM_014017.3:c.187G>C, NM_001145264.2:c.187G>A, NM_001145264.2:c.187G>C, NM_001145264.1:c.187G>A, NM_001145264.1:c.187G>C, NP_054736.1:p.Ala63Thr, NP_054736.1:p.Ala63Pro, NP_001138736.1:p.Ala63Thr, NP_001138736.1:p.Ala63Pro

Select item 137056536112.

rs1370565361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:156055356 (GRCh38)
1:156025147 (GRCh37)
Canonical SPDI:: NC_000001.11:156055355:C:G
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156055356C>G, NC_000001.10:g.156025147C>G, NG_009898.1:g.5631C>G, NM_014017.4:c.162C>G, NM_014017.3:c.162C>G, NM_001145264.2:c.162C>G, NM_001145264.1:c.162C>G

Select item 135638111313.

rs1356381113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:156058323 (GRCh38)
1:156028114 (GRCh37)
Canonical SPDI:: NC_000001.11:156058322:T:C
Gene:: LAMTOR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156058323T>C, NC_000001.10:g.156028114T>C, NG_009898.1:g.8598T>C, NM_014017.4:c.330T>C, NM_014017.3:c.330T>C, NM_001145264.2:c.240T>C, NM_001145264.1:c.240T>C

Select item 135015982614.

rs1350159826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156054903 (GRCh38)
1:156024694 (GRCh37)
Canonical SPDI:: NC_000001.11:156054902:A:G
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156054903A>G, NC_000001.10:g.156024694A>G, NG_009898.1:g.5178A>G, NM_014017.4:c.14A>G, NM_014017.3:c.14A>G, NM_001145264.2:c.14A>G, NM_001145264.1:c.14A>G, NP_054736.1:p.Lys5Arg, NP_001138736.1:p.Lys5Arg

Select item 134509164515.

rs1345091645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156054930 (GRCh38)
1:156024721 (GRCh37)
Canonical SPDI:: NC_000001.11:156054929:C:T
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156054930C>T, NC_000001.10:g.156024721C>T, NG_009898.1:g.5205C>T, NM_014017.4:c.41C>T, NM_014017.3:c.41C>T, NM_001145264.2:c.41C>T, NM_001145264.1:c.41C>T, NP_054736.1:p.Ala14Val, NP_001138736.1:p.Ala14Val

Select item 134023383216.

rs1340233832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156057985 (GRCh38)
1:156027776 (GRCh37)
Canonical SPDI:: NC_000001.11:156057984:G:A
Gene:: LAMTOR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00013/3 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.156057985G>A, NC_000001.10:g.156027776G>A, NG_009898.1:g.8260G>A, NM_014017.4:c.239G>A, NM_014017.3:c.239G>A, NP_054736.1:p.Arg80His

Select item 133958889017.

rs1339588890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:156055362 (GRCh38)
1:156025153 (GRCh37)
Canonical SPDI:: NC_000001.11:156055361:C:A
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: upstream_transcript_variant,stop_gained,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156055362C>A, NC_000001.10:g.156025153C>A, NG_009898.1:g.5637C>A, NM_014017.4:c.168C>A, NM_014017.3:c.168C>A, NM_001145264.2:c.168C>A, NM_001145264.1:c.168C>A, NP_054736.1:p.Tyr56Ter, NP_001138736.1:p.Tyr56Ter

Select item 133678640118.

rs1336786401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:156058017 (GRCh38)
1:156027808 (GRCh37)
Canonical SPDI:: NC_000001.11:156058016:C:G
Gene:: LAMTOR2 (Varview)
Functional Consequence:: missense_variant,intron_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)
HGVS:: NC_000001.11:g.156058017C>G, NC_000001.10:g.156027808C>G, NG_009898.1:g.8292C>G, NM_014017.4:c.271C>G, NM_014017.3:c.271C>G, NP_054736.1:p.Leu91Val

Select item 132650862919.

rs1326508629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156055324 (GRCh38)
1:156025115 (GRCh37)
Canonical SPDI:: NC_000001.11:156055323:G:A
Gene:: LAMTOR2 (Varview), UBQLN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000001.11:g.156055324G>A, NC_000001.10:g.156025115G>A, NG_009898.1:g.5599G>A, NM_014017.4:c.130G>A, NM_014017.3:c.130G>A, NM_001145264.2:c.130G>A, NM_001145264.1:c.130G>A, NP_054736.1:p.Val44Ile, NP_001138736.1:p.Val44Ile

Select item 132137876520.

rs1321378765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156058060 (GRCh38)
1:156027851 (GRCh37)
Canonical SPDI:: NC_000001.11:156058059:A:G
Gene:: LAMTOR2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156058060A>G, NC_000001.10:g.156027851A>G, NG_009898.1:g.8335A>G, NM_014017.4:c.314A>G, NM_014017.3:c.314A>G, NP_054736.1:p.Lys105Arg

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