SNP Links for Protein (Select 222446642) - SNP

Links from Protein

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Select item 14893545291.

rs1489354529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151287458 (GRCh38)
5:150667019 (GRCh37)
Canonical SPDI:: NC_000005.10:151287457:C:T
Gene:: SLC36A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151287458C>T, NC_000005.9:g.150667019C>T, NM_181774.4:c.496G>A, NM_181774.3:c.496G>A, XM_011537627.4:c.496G>A, XM_011537627.3:c.496G>A, XM_011537627.2:c.496G>A, XM_011537627.1:c.496G>A, XM_011537631.3:c.151G>A, XM_011537631.2:c.151G>A, XM_011537631.1:c.151G>A, XM_011537630.3:c.151G>A, XM_011537630.2:c.151G>A, XM_011537630.1:c.151G>A, XM_011537634.3:c.530G>A, XM_011537634.2:c.530G>A, XM_011537634.1:c.530G>A, NM_001145017.2:c.619G>A, NM_001145017.1:c.619G>A, XM_011537633.2:c.7G>A, XM_011537633.1:c.7G>A, NP_861439.3:p.Glu166Lys, XP_011535929.1:p.Glu166Lys, XP_011535933.1:p.Glu51Lys, XP_011535932.1:p.Glu51Lys, XP_011535936.1:p.Gly177Glu, NP_001138489.1:p.Glu207Lys, XP_011535935.1:p.Glu3Lys

Select item 14886322972.

rs1488632297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151288982 (GRCh38)
5:150668543 (GRCh37)
Canonical SPDI:: NC_000005.10:151288981:C:T
Gene:: SLC36A3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000005.10:g.151288982C>T, NC_000005.9:g.150668543C>T, NM_001145017.2:c.479G>A, NM_001145017.1:c.479G>A, NP_001138489.1:p.Gly160Asp

Select item 14882511513.

rs1488251151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151284116 (GRCh38)
5:150663677 (GRCh37)
Canonical SPDI:: NC_000005.10:151284115:A:G
Gene:: SLC36A3 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151284116A>G, NC_000005.9:g.150663677A>G, NM_181774.4:c.902T>C, NM_181774.3:c.902T>C, XM_011537627.4:c.824T>C, XM_011537627.3:c.824T>C, XM_011537627.2:c.824T>C, XM_011537627.1:c.824T>C, XM_011537631.3:c.557T>C, XM_011537631.2:c.557T>C, XM_011537631.1:c.557T>C, XM_011537630.3:c.557T>C, XM_011537630.2:c.557T>C, XM_011537630.1:c.557T>C, NM_001145017.2:c.1025T>C, NM_001145017.1:c.1025T>C, XM_011537633.2:c.413T>C, XM_011537633.1:c.413T>C, NP_861439.3:p.Leu301Pro, XP_011535929.1:p.Leu275Pro, XP_011535933.1:p.Leu186Pro, XP_011535932.1:p.Leu186Pro, NP_001138489.1:p.Leu342Pro, XP_011535935.1:p.Leu138Pro

Select item 14834006424.

rs1483400642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:151288996 (GRCh38)
5:150668557 (GRCh37)
Canonical SPDI:: NC_000005.10:151288995:G:C,NC_000005.10:151288995:G:T
Gene:: SLC36A3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_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_000005.10:g.151288996G>C, NC_000005.10:g.151288996G>T, NC_000005.9:g.150668557G>C, NC_000005.9:g.150668557G>T, NM_001145017.2:c.465C>G, NM_001145017.2:c.465C>A, NM_001145017.1:c.465C>G, NM_001145017.1:c.465C>A, NP_001138489.1:p.Asn155Lys, NP_001138489.1:p.Asn155Lys

Select item 14833669655.

rs1483366965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:151296191 (GRCh38)
5:150675752 (GRCh37)
Canonical SPDI:: NC_000005.10:151296190:G:A,NC_000005.10:151296190:G:C
Gene:: SLC36A3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000005.10:g.151296191G>A, NC_000005.10:g.151296191G>C, NC_000005.9:g.150675752G>A, NC_000005.9:g.150675752G>C, NM_181774.4:c.297C>T, NM_181774.4:c.297C>G, NM_181774.3:c.297C>T, NM_181774.3:c.297C>G, XM_011537627.4:c.297C>T, XM_011537627.4:c.297C>G, XM_011537627.3:c.297C>T, XM_011537627.3:c.297C>G, XM_011537627.2:c.297C>T, XM_011537627.2:c.297C>G, XM_011537627.1:c.297C>T, XM_011537627.1:c.297C>G, XM_011537630.3:c.-97C>T, XM_011537630.3:c.-97C>G, XM_011537630.2:c.-97C>T, XM_011537630.2:c.-97C>G, XM_011537630.1:c.-97C>T, XM_011537630.1:c.-97C>G, XM_011537634.3:c.297C>T, XM_011537634.3:c.297C>G, XM_011537634.2:c.297C>T, XM_011537634.2:c.297C>G, XM_011537634.1:c.297C>T, XM_011537634.1:c.297C>G, NM_001145017.2:c.297C>T, NM_001145017.2:c.297C>G, NM_001145017.1:c.297C>T, NM_001145017.1:c.297C>G, NP_861439.3:p.His99Gln, XP_011535929.1:p.His99Gln, XP_011535936.1:p.His99Gln, NP_001138489.1:p.His99Gln

Select item 14771570326.

rs1477157032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151293384 (GRCh38)
5:150672945 (GRCh37)
Canonical SPDI:: NC_000005.10:151293383:C:T
Gene:: SLC36A3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151293384C>T, NC_000005.9:g.150672945C>T, NM_181774.4:c.384G>A, NM_181774.3:c.384G>A, XM_011537627.4:c.384G>A, XM_011537627.3:c.384G>A, XM_011537627.2:c.384G>A, XM_011537627.1:c.384G>A, XM_011537631.3:c.39G>A, XM_011537631.2:c.39G>A, XM_011537631.1:c.39G>A, XM_011537630.3:c.39G>A, XM_011537630.2:c.39G>A, XM_011537630.1:c.39G>A, XM_011537634.3:c.384G>A, XM_011537634.2:c.384G>A, XM_011537634.1:c.384G>A, NM_001145017.2:c.384G>A, NM_001145017.1:c.384G>A

Select item 14733392757.

rs1473339275 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:151288417 (GRCh38)
5:150667978 (GRCh37)
Canonical SPDI:: NC_000005.10:151288415:ATA:A
Gene:: SLC36A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.151288417_151288418del, NC_000005.9:g.150667978_150667979del, NM_181774.4:c.458_459del, NM_181774.3:c.458_459del, XM_011537627.4:c.458_459del, XM_011537627.3:c.458_459del, XM_011537627.2:c.458_459del, XM_011537627.1:c.458_459del, XM_011537631.3:c.113_114del, XM_011537631.2:c.113_114del, XM_011537631.1:c.113_114del, XM_011537630.3:c.113_114del, XM_011537630.2:c.113_114del, XM_011537630.1:c.113_114del, XM_011537634.3:c.458_459del, XM_011537634.2:c.458_459del, XM_011537634.1:c.458_459del, NM_001145017.2:c.581_582del, NM_001145017.1:c.581_582del, XM_011537633.2:c.-66_-65del, XM_011537633.1:c.-66_-65del, NP_861439.3:p.Tyr153fs, XP_011535929.1:p.Tyr153fs, XP_011535933.1:p.Tyr38fs, XP_011535932.1:p.Tyr38fs, XP_011535936.1:p.Tyr153fs, NP_001138489.1:p.Tyr194fs

Select item 14588950748.

rs1458895074 [Homo sapiens]

Variant type:: DEL
Alleles:: GGCTGAG>- [Show Flanks]
Chromosome:: 5:151277651 (GRCh38)
5:150657212 (GRCh37)
Canonical SPDI:: NC_000005.10:151277650:GGCTGAG:
Gene:: SLC36A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.151277651_151277657del, NC_000005.9:g.150657212_150657218del, NM_181774.4:c.1149_1155del, NM_181774.3:c.1149_1155del, XM_011537627.4:c.1071_1077del, XM_011537627.3:c.1071_1077del, XM_011537627.2:c.1071_1077del, XM_011537627.1:c.1071_1077del, XM_011537631.3:c.804_810del, XM_011537631.2:c.804_810del, XM_011537631.1:c.804_810del, XM_011537630.3:c.804_810del, XM_011537630.2:c.804_810del, XM_011537630.1:c.804_810del, NM_001145017.2:c.1272_1278del, NM_001145017.1:c.1272_1278del, XM_011537633.2:c.660_666del, XM_011537633.1:c.660_666del, NP_861439.3:p.Ala385fs, XP_011535929.1:p.Ala359fs, XP_011535933.1:p.Ala270fs, XP_011535932.1:p.Ala270fs, NP_001138489.1:p.Ala426fs, XP_011535935.1:p.Ala222fs

Select item 14587581999.

rs1458758199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151288414 (GRCh38)
5:150667975 (GRCh37)
Canonical SPDI:: NC_000005.10:151288413:A:G
Gene:: SLC36A3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151288414A>G, NC_000005.9:g.150667975A>G, NM_181774.4:c.461T>C, NM_181774.3:c.461T>C, XM_011537627.4:c.461T>C, XM_011537627.3:c.461T>C, XM_011537627.2:c.461T>C, XM_011537627.1:c.461T>C, XM_011537631.3:c.116T>C, XM_011537631.2:c.116T>C, XM_011537631.1:c.116T>C, XM_011537630.3:c.116T>C, XM_011537630.2:c.116T>C, XM_011537630.1:c.116T>C, XM_011537634.3:c.461T>C, XM_011537634.2:c.461T>C, XM_011537634.1:c.461T>C, NM_001145017.2:c.584T>C, NM_001145017.1:c.584T>C, XM_011537633.2:c.-63T>C, XM_011537633.1:c.-63T>C, NP_861439.3:p.Phe154Ser, XP_011535929.1:p.Phe154Ser, XP_011535933.1:p.Phe39Ser, XP_011535932.1:p.Phe39Ser, XP_011535936.1:p.Phe154Ser, NP_001138489.1:p.Phe195Ser

Select item 145773648810.

rs1457736488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:151284137 (GRCh38)
5:150663698 (GRCh37)
Canonical SPDI:: NC_000005.10:151284136:A:C,NC_000005.10:151284136:A:G
Gene:: SLC36A3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151284137A>C, NC_000005.10:g.151284137A>G, NC_000005.9:g.150663698A>C, NC_000005.9:g.150663698A>G, NM_181774.4:c.881T>G, NM_181774.4:c.881T>C, NM_181774.3:c.881T>G, NM_181774.3:c.881T>C, XM_011537627.4:c.803T>G, XM_011537627.4:c.803T>C, XM_011537627.3:c.803T>G, XM_011537627.3:c.803T>C, XM_011537627.2:c.803T>G, XM_011537627.2:c.803T>C, XM_011537627.1:c.803T>G, XM_011537627.1:c.803T>C, XM_011537631.3:c.536T>G, XM_011537631.3:c.536T>C, XM_011537631.2:c.536T>G, XM_011537631.2:c.536T>C, XM_011537631.1:c.536T>G, XM_011537631.1:c.536T>C, XM_011537630.3:c.536T>G, XM_011537630.3:c.536T>C, XM_011537630.2:c.536T>G, XM_011537630.2:c.536T>C, XM_011537630.1:c.536T>G, XM_011537630.1:c.536T>C, XM_011537634.3:c.*87T>G, XM_011537634.3:c.*87T>C, XM_011537634.2:c.*87T>G, XM_011537634.2:c.*87T>C, XM_011537634.1:c.*87T>G, XM_011537634.1:c.*87T>C, NM_001145017.2:c.1004T>G, NM_001145017.2:c.1004T>C, NM_001145017.1:c.1004T>G, NM_001145017.1:c.1004T>C, XM_011537633.2:c.392T>G, XM_011537633.2:c.392T>C, XM_011537633.1:c.392T>G, XM_011537633.1:c.392T>C, NP_861439.3:p.Val294Gly, NP_861439.3:p.Val294Ala, XP_011535929.1:p.Val268Gly, XP_011535929.1:p.Val268Ala, XP_011535933.1:p.Val179Gly, XP_011535933.1:p.Val179Ala, XP_011535932.1:p.Val179Gly, XP_011535932.1:p.Val179Ala, NP_001138489.1:p.Val335Gly, NP_001138489.1:p.Val335Ala, XP_011535935.1:p.Val131Gly, XP_011535935.1:p.Val131Ala

Select item 145410166611.

rs1454101666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:151287318 (GRCh38)
5:150666879 (GRCh37)
Canonical SPDI:: NC_000005.10:151287317:C:G
Gene:: SLC36A3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.151287318C>G, NC_000005.9:g.150666879C>G, NM_181774.4:c.636G>C, NM_181774.3:c.636G>C, XM_011537631.3:c.291G>C, XM_011537631.2:c.291G>C, XM_011537631.1:c.291G>C, XM_011537630.3:c.291G>C, XM_011537630.2:c.291G>C, XM_011537630.1:c.291G>C, NM_001145017.2:c.759G>C, NM_001145017.1:c.759G>C, XM_011537633.2:c.147G>C, XM_011537633.1:c.147G>C

Select item 145382542712.

rs1453825427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151289019 (GRCh38)
5:150668580 (GRCh37)
Canonical SPDI:: NC_000005.10:151289018:C:T
Gene:: SLC36A3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.151289019C>T, NC_000005.9:g.150668580C>T, NM_001145017.2:c.442G>A, NM_001145017.1:c.442G>A, NP_001138489.1:p.Gly148Ser