SNP Links for Protein (Select 56549147) - SNP

Links from Protein

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Select item 14882433191.

rs1488243319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:119247697 (GRCh38)
2:120005273 (GRCh37)
Canonical SPDI:: NC_000002.12:119247696:C:G
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119247697C>G, NC_000002.11:g.120005273C>G, NG_042823.1:g.28890C>G, NM_182915.3:c.541C>G, NM_182915.2:c.541C>G, NM_138637.3:c.511C>G, NM_138637.2:c.511C>G, NM_138637.1:c.511C>G, NM_018234.3:c.511C>G, NM_018234.2:c.511C>G, NM_001008410.2:c.511C>G, NM_001008410.1:c.511C>G, XM_011511403.2:c.511C>G, XM_011511403.1:c.511C>G, XM_047444895.1:c.541C>G, NP_878919.2:p.Gln181Glu, NP_619543.2:p.Gln171Glu, NP_060704.2:p.Gln171Glu, NP_001008410.1:p.Gln171Glu, XP_011509705.1:p.Gln171Glu, XP_047300851.1:p.Gln181Glu

Select item 14882066562.

rs1488206656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119247873 (GRCh38)
2:120005449 (GRCh37)
Canonical SPDI:: NC_000002.12:119247872:C:T
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.119247873C>T, NC_000002.11:g.120005449C>T, NG_042823.1:g.29066C>T, NM_182915.3:c.717C>T, NM_182915.2:c.717C>T, NM_138637.3:c.687C>T, NM_138637.2:c.687C>T, NM_138637.1:c.687C>T, NM_018234.3:c.687C>T, NM_018234.2:c.687C>T, NM_001008410.2:c.687C>T, NM_001008410.1:c.687C>T, XM_011511403.2:c.687C>T, XM_011511403.1:c.687C>T, XM_047444895.1:c.717C>T

Select item 14862730663.

rs1486273066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:119245567 (GRCh38)
2:120003143 (GRCh37)
Canonical SPDI:: NC_000002.12:119245566:T:A
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119245567T>A, NC_000002.11:g.120003143T>A, NG_042823.1:g.26760T>A, NM_182915.3:c.101T>A, NM_182915.2:c.101T>A, NM_138637.3:c.71T>A, NM_138637.2:c.71T>A, NM_138637.1:c.71T>A, NM_018234.3:c.71T>A, NM_018234.2:c.71T>A, NM_001008410.2:c.71T>A, NM_001008410.1:c.71T>A, XM_011511403.2:c.71T>A, XM_011511403.1:c.71T>A, XM_047444895.1:c.101T>A, NR_046721.1:n.2073A>T, NP_878919.2:p.Val34Asp, NP_619543.2:p.Val24Asp, NP_060704.2:p.Val24Asp, NP_001008410.1:p.Val24Asp, XP_011509705.1:p.Val24Asp, XP_047300851.1:p.Val34Asp

Select item 14845800854.

rs1484580085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119245725 (GRCh38)
2:120003301 (GRCh37)
Canonical SPDI:: NC_000002.12:119245724:C:T
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.119245725C>T, NC_000002.11:g.120003301C>T, NG_042823.1:g.26918C>T, NM_182915.3:c.259C>T, NM_182915.2:c.259C>T, NM_138637.3:c.229C>T, NM_138637.2:c.229C>T, NM_138637.1:c.229C>T, NM_018234.3:c.229C>T, NM_018234.2:c.229C>T, NM_001008410.2:c.229C>T, NM_001008410.1:c.229C>T, XM_011511403.2:c.229C>T, XM_011511403.1:c.229C>T, XM_047444895.1:c.259C>T, NR_046721.1:n.1915G>A, NP_878919.2:p.Gln87Ter, NP_619543.2:p.Gln77Ter, NP_060704.2:p.Gln77Ter, NP_001008410.1:p.Gln77Ter, XP_011509705.1:p.Gln77Ter, XP_047300851.1:p.Gln87Ter

Select item 14835982655.

rs1483598265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:119245603 (GRCh38)
2:120003179 (GRCh37)
Canonical SPDI:: NC_000002.12:119245602:G:C
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.119245603G>C, NC_000002.11:g.120003179G>C, NG_042823.1:g.26796G>C, NM_182915.3:c.137G>C, NM_182915.2:c.137G>C, NM_138637.3:c.107G>C, NM_138637.2:c.107G>C, NM_138637.1:c.107G>C, NM_018234.3:c.107G>C, NM_018234.2:c.107G>C, NM_001008410.2:c.107G>C, NM_001008410.1:c.107G>C, XM_011511403.2:c.107G>C, XM_011511403.1:c.107G>C, XM_047444895.1:c.137G>C, NR_046721.1:n.2037C>G, NP_878919.2:p.Ser46Thr, NP_619543.2:p.Ser36Thr, NP_060704.2:p.Ser36Thr, NP_001008410.1:p.Ser36Thr, XP_011509705.1:p.Ser36Thr, XP_047300851.1:p.Ser46Thr

Select item 14831586026.

rs1483158602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:119245964 (GRCh38)
2:120003540 (GRCh37)
Canonical SPDI:: NC_000002.12:119245963:T:A
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000002.12:g.119245964T>A, NC_000002.11:g.120003540T>A, NG_042823.1:g.27157T>A, NM_182915.3:c.498T>A, NM_182915.2:c.498T>A, NM_138637.3:c.468T>A, NM_138637.2:c.468T>A, NM_138637.1:c.468T>A, NM_018234.3:c.468T>A, NM_018234.2:c.468T>A, NM_001008410.2:c.468T>A, NM_001008410.1:c.468T>A, XM_011511403.2:c.468T>A, XM_011511403.1:c.468T>A, XM_047444895.1:c.498T>A, NR_046721.1:n.1676A>T

Select item 14805223037.

rs1480522303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:119263215 (GRCh38)
2:120020791 (GRCh37)
Canonical SPDI:: NC_000002.12:119263214:G:A
Gene:: STEAP3 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.119263215G>A, NC_000002.11:g.120020791G>A, NG_042823.1:g.44408G>A, NM_182915.3:c.1374G>A, NM_182915.2:c.1374G>A, NM_138637.3:c.*202G>A, NM_138637.2:c.*202G>A, NM_138637.1:c.*202G>A, NM_018234.3:c.1344G>A, NM_018234.2:c.1344G>A, NM_001008410.2:c.1344G>A, NM_001008410.1:c.1344G>A, XM_011511403.2:c.1344G>A, XM_011511403.1:c.1344G>A, XM_047444895.1:c.1374G>A

Select item 14786297778.

rs1478629777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:119263276 (GRCh38)
2:120020852 (GRCh37)
Canonical SPDI:: NC_000002.12:119263275:A:G
Gene:: STEAP3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.001638/3 (Korea1K)
HGVS:: NC_000002.12:g.119263276A>G, NC_000002.11:g.120020852A>G, NG_042823.1:g.44469A>G, NM_182915.3:c.1435A>G, NM_182915.2:c.1435A>G, NM_138637.3:c.*263A>G, NM_138637.2:c.*263A>G, NM_138637.1:c.*263A>G, NM_018234.3:c.1405A>G, NM_018234.2:c.1405A>G, NM_001008410.2:c.1405A>G, NM_001008410.1:c.1405A>G, XM_011511403.2:c.1405A>G, XM_011511403.1:c.1405A>G, XM_047444895.1:c.1435A>G, NP_878919.2:p.Ser479Gly, NP_060704.2:p.Ser469Gly, NP_001008410.1:p.Ser469Gly, XP_011509705.1:p.Ser469Gly, XP_047300851.1:p.Ser479Gly

Select item 14775660049.

rs1477566004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:119248164 (GRCh38)
2:120005740 (GRCh37)
Canonical SPDI:: NC_000002.12:119248163:C:A
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_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_000002.12:g.119248164C>A, NC_000002.11:g.120005740C>A, NG_042823.1:g.29357C>A, NM_182915.3:c.1008C>A, NM_182915.2:c.1008C>A, NM_138637.3:c.978C>A, NM_138637.2:c.978C>A, NM_138637.1:c.978C>A, NM_018234.3:c.978C>A, NM_018234.2:c.978C>A, NM_001008410.2:c.978C>A, NM_001008410.1:c.978C>A, XM_011511403.2:c.978C>A, XM_011511403.1:c.978C>A, XM_047444895.1:c.1008C>A

Select item 147466829910.

rs1474668299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:119245780 (GRCh38)
2:120003356 (GRCh37)
Canonical SPDI:: NC_000002.12:119245779:A:G
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119245780A>G, NC_000002.11:g.120003356A>G, NG_042823.1:g.26973A>G, NM_182915.3:c.314A>G, NM_182915.2:c.314A>G, NM_138637.3:c.284A>G, NM_138637.2:c.284A>G, NM_138637.1:c.284A>G, NM_018234.3:c.284A>G, NM_018234.2:c.284A>G, NM_001008410.2:c.284A>G, NM_001008410.1:c.284A>G, XM_011511403.2:c.284A>G, XM_011511403.1:c.284A>G, XM_047444895.1:c.314A>G, NR_046721.1:n.1860T>C, NP_878919.2:p.His105Arg, NP_619543.2:p.His95Arg, NP_060704.2:p.His95Arg, NP_001008410.1:p.His95Arg, XP_011509705.1:p.His95Arg, XP_047300851.1:p.His105Arg

Select item 147318441611.

rs1473184416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:119263081 (GRCh38)
2:120020657 (GRCh37)
Canonical SPDI:: NC_000002.12:119263080:G:A,NC_000002.12:119263080:G:T
Gene:: STEAP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000091/3 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.119263081G>A, NC_000002.12:g.119263081G>T, NC_000002.11:g.120020657G>A, NC_000002.11:g.120020657G>T, NG_042823.1:g.44274G>A, NG_042823.1:g.44274G>T, NM_182915.3:c.1240G>A, NM_182915.3:c.1240G>T, NM_182915.2:c.1240G>A, NM_182915.2:c.1240G>T, NM_138637.3:c.*68G>A, NM_138637.3:c.*68G>T, NM_138637.2:c.*68G>A, NM_138637.2:c.*68G>T, NM_138637.1:c.*68G>A, NM_138637.1:c.*68G>T, NM_018234.3:c.1210G>A, NM_018234.3:c.1210G>T, NM_018234.2:c.1210G>A, NM_018234.2:c.1210G>T, NM_001008410.2:c.1210G>A, NM_001008410.2:c.1210G>T, NM_001008410.1:c.1210G>A, NM_001008410.1:c.1210G>T, XM_011511403.2:c.1210G>A, XM_011511403.2:c.1210G>T, XM_011511403.1:c.1210G>A, XM_011511403.1:c.1210G>T, XM_047444895.1:c.1240G>A, XM_047444895.1:c.1240G>T, NP_878919.2:p.Val414Met, NP_878919.2:p.Val414Leu, NP_060704.2:p.Val404Met, NP_060704.2:p.Val404Leu, NP_001008410.1:p.Val404Met, NP_001008410.1:p.Val404Leu, XP_011509705.1:p.Val404Met, XP_011509705.1:p.Val404Leu, XP_047300851.1:p.Val414Met, XP_047300851.1:p.Val414Leu

Select item 147103297312.

rs1471032973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:119254724 (GRCh38)
2:120012300 (GRCh37)
Canonical SPDI:: NC_000002.12:119254723:T:C
Gene:: STEAP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.119254724T>C, NC_000002.11:g.120012300T>C, NG_042823.1:g.35917T>C, NM_182915.3:c.1091T>C, NM_182915.2:c.1091T>C, NM_138637.3:c.1061T>C, NM_138637.2:c.1061T>C, NM_138637.1:c.1058T>C, NM_018234.3:c.1061T>C, NM_018234.2:c.1061T>C, NM_001008410.2:c.1061T>C, NM_001008410.1:c.1061T>C, XM_011511403.2:c.1061T>C, XM_011511403.1:c.1061T>C, XM_047444895.1:c.1091T>C, NP_878919.2:p.Val364Ala, NP_619543.2:p.Val354Ala, NP_060704.2:p.Val354Ala, NP_001008410.1:p.Val354Ala, XP_011509705.1:p.Val354Ala, XP_047300851.1:p.Val364Ala

Select item 147075773713.

rs1470757737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:119247983 (GRCh38)
2:120005559 (GRCh37)
Canonical SPDI:: NC_000002.12:119247982:T:C
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.119247983T>C, NC_000002.11:g.120005559T>C, NG_042823.1:g.29176T>C, NM_182915.3:c.827T>C, NM_182915.2:c.827T>C, NM_138637.3:c.797T>C, NM_138637.2:c.797T>C, NM_138637.1:c.797T>C, NM_018234.3:c.797T>C, NM_018234.2:c.797T>C, NM_001008410.2:c.797T>C, NM_001008410.1:c.797T>C, XM_011511403.2:c.797T>C, XM_011511403.1:c.797T>C, XM_047444895.1:c.827T>C, NP_878919.2:p.Leu276Pro, NP_619543.2:p.Leu266Pro, NP_060704.2:p.Leu266Pro, NP_001008410.1:p.Leu266Pro, XP_011509705.1:p.Leu266Pro, XP_047300851.1:p.Leu276Pro

Select item 146805924014.

rs1468059240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119245695 (GRCh38)
2:120003271 (GRCh37)
Canonical SPDI:: NC_000002.12:119245694:C:T
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119245695C>T, NC_000002.11:g.120003271C>T, NG_042823.1:g.26888C>T, NM_182915.3:c.229C>T, NM_182915.2:c.229C>T, NM_138637.3:c.199C>T, NM_138637.2:c.199C>T, NM_138637.1:c.199C>T, NM_018234.3:c.199C>T, NM_018234.2:c.199C>T, NM_001008410.2:c.199C>T, NM_001008410.1:c.199C>T, XM_011511403.2:c.199C>T, XM_011511403.1:c.199C>T, XM_047444895.1:c.229C>T, NR_046721.1:n.1945G>A

Select item 146534333215.

rs1465343332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:119248064 (GRCh38)
2:120005640 (GRCh37)
Canonical SPDI:: NC_000002.12:119248063:A:G
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119248064A>G, NC_000002.11:g.120005640A>G, NG_042823.1:g.29257A>G, NM_182915.3:c.908A>G, NM_182915.2:c.908A>G, NM_138637.3:c.878A>G, NM_138637.2:c.878A>G, NM_138637.1:c.878A>G, NM_018234.3:c.878A>G, NM_018234.2:c.878A>G, NM_001008410.2:c.878A>G, NM_001008410.1:c.878A>G, XM_011511403.2:c.878A>G, XM_011511403.1:c.878A>G, XM_047444895.1:c.908A>G, NP_878919.2:p.Asp303Gly, NP_619543.2:p.Asp293Gly, NP_060704.2:p.Asp293Gly, NP_001008410.1:p.Asp293Gly, XP_011509705.1:p.Asp293Gly, XP_047300851.1:p.Asp303Gly

Select item 146096985616.

rs1460969856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:119245911 (GRCh38)
2:120003487 (GRCh37)
Canonical SPDI:: NC_000002.12:119245910:A:T
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_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_000002.12:g.119245911A>T, NC_000002.11:g.120003487A>T, NG_042823.1:g.27104A>T, NM_182915.3:c.445A>T, NM_182915.2:c.445A>T, NM_138637.3:c.415A>T, NM_138637.2:c.415A>T, NM_138637.1:c.415A>T, NM_018234.3:c.415A>T, NM_018234.2:c.415A>T, NM_001008410.2:c.415A>T, NM_001008410.1:c.415A>T, XM_011511403.2:c.415A>T, XM_011511403.1:c.415A>T, XM_047444895.1:c.445A>T, NR_046721.1:n.1729T>A, NP_878919.2:p.Thr149Ser, NP_619543.2:p.Thr139Ser, NP_060704.2:p.Thr139Ser, NP_001008410.1:p.Thr139Ser, XP_011509705.1:p.Thr139Ser, XP_047300851.1:p.Thr149Ser

Select item 146004927117.

rs1460049271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:119254778 (GRCh38)
2:120012354 (GRCh37)
Canonical SPDI:: NC_000002.12:119254777:C:G
Gene:: STEAP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119254778C>G, NC_000002.11:g.120012354C>G, NG_042823.1:g.35971C>G, NM_182915.3:c.1145C>G, NM_182915.2:c.1145C>G, NM_138637.3:c.1115C>G, NM_138637.2:c.1115C>G, NM_138637.1:c.1112C>G, NM_018234.3:c.1115C>G, NM_018234.2:c.1115C>G, NM_001008410.2:c.1115C>G, NM_001008410.1:c.1115C>G, XM_011511403.2:c.1115C>G, XM_011511403.1:c.1115C>G, XM_047444895.1:c.1145C>G, NP_878919.2:p.Ser382Cys, NP_619543.2:p.Ser372Cys, NP_060704.2:p.Ser372Cys, NP_001008410.1:p.Ser372Cys, XP_011509705.1:p.Ser372Cys, XP_047300851.1:p.Ser382Cys

Select item 145946515318.

rs1459465153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:119245925 (GRCh38)
2:120003501 (GRCh37)
Canonical SPDI:: NC_000002.12:119245924:C:A
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119245925C>A, NC_000002.11:g.120003501C>A, NG_042823.1:g.27118C>A, NM_182915.3:c.459C>A, NM_182915.2:c.459C>A, NM_138637.3:c.429C>A, NM_138637.2:c.429C>A, NM_138637.1:c.429C>A, NM_018234.3:c.429C>A, NM_018234.2:c.429C>A, NM_001008410.2:c.429C>A, NM_001008410.1:c.429C>A, XM_011511403.2:c.429C>A, XM_011511403.1:c.429C>A, XM_047444895.1:c.459C>A, NR_046721.1:n.1715G>T

Select item 145796685319.

rs1457966853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:119248042 (GRCh38)
2:120005618 (GRCh37)
Canonical SPDI:: NC_000002.12:119248041:A:G
Gene:: STEAP3 (Varview), STEAP3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000002.12:g.119248042A>G, NC_000002.11:g.120005618A>G, NG_042823.1:g.29235A>G, NM_182915.3:c.886A>G, NM_182915.2:c.886A>G, NM_138637.3:c.856A>G, NM_138637.2:c.856A>G, NM_138637.1:c.856A>G, NM_018234.3:c.856A>G, NM_018234.2:c.856A>G, NM_001008410.2:c.856A>G, NM_001008410.1:c.856A>G, XM_011511403.2:c.856A>G, XM_011511403.1:c.856A>G, XM_047444895.1:c.886A>G, NP_878919.2:p.Thr296Ala, NP_619543.2:p.Thr286Ala, NP_060704.2:p.Thr286Ala, NP_001008410.1:p.Thr286Ala, XP_011509705.1:p.Thr286Ala, XP_047300851.1:p.Thr296Ala

Select item 145713778720.

rs1457137787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119263284 (GRCh38)
2:120020860 (GRCh37)
Canonical SPDI:: NC_000002.12:119263283:C:T
Gene:: STEAP3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_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_000002.12:g.119263284C>T, NC_000002.11:g.120020860C>T, NG_042823.1:g.44477C>T, NM_182915.3:c.1443C>T, NM_182915.2:c.1443C>T, NM_138637.3:c.*271C>T, NM_138637.2:c.*271C>T, NM_138637.1:c.*271C>T, NM_018234.3:c.1413C>T, NM_018234.2:c.1413C>T, NM_001008410.2:c.1413C>T, NM_001008410.1:c.1413C>T, XM_011511403.2:c.1413C>T, XM_011511403.1:c.1413C>T, XM_047444895.1:c.1443C>T

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