SNP Links for Protein (Select 256818827) - SNP

Select item 14885746571.

rs1488574657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:241606353 (GRCh38)
2:242545768 (GRCh37)
Canonical SPDI:: NC_000002.12:241606352:A:C,NC_000002.12:241606352:A:G
Gene:: THAP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.241606353A>C, NC_000002.12:g.241606353A>G, NC_000002.11:g.242545768A>C, NC_000002.11:g.242545768A>G, NM_015963.6:c.1361T>G, NM_015963.6:c.1361T>C, NM_015963.5:c.1361T>G, NM_015963.5:c.1361T>C, XM_005247016.5:c.1361T>G, XM_005247016.5:c.1361T>C, XM_005247016.4:c.1682T>G, XM_005247016.4:c.1682T>C, XM_005247016.3:c.1361T>G, XM_005247016.3:c.1361T>C, XM_005247016.2:c.1682T>G, XM_005247016.2:c.1682T>C, XM_005247016.1:c.1682T>G, XM_005247016.1:c.1682T>C, XM_011511291.3:c.1433T>G, XM_011511291.3:c.1433T>C, XM_011511291.2:c.1433T>G, XM_011511291.2:c.1433T>C, XM_011511291.1:c.1433T>G, XM_011511291.1:c.1433T>C, XM_017004256.2:c.1433T>G, XM_017004256.2:c.1433T>C, XM_017004256.1:c.1433T>G, XM_017004256.1:c.1433T>C, NM_001164356.2:c.125T>G, NM_001164356.2:c.125T>C, NM_001164356.1:c.125T>G, NM_001164356.1:c.125T>C, NP_057047.4:p.Val454Gly, NP_057047.4:p.Val454Ala, XP_005247073.4:p.Val454Gly, XP_005247073.4:p.Val454Ala, XP_011509593.1:p.Val478Gly, XP_011509593.1:p.Val478Ala, XP_016859745.1:p.Val478Gly, XP_016859745.1:p.Val478Ala, NP_001157828.1:p.Val42Gly, NP_001157828.1:p.Val42Ala

Select item 14830556452.

rs1483055645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241601992 (GRCh38)
2:242541407 (GRCh37)
Canonical SPDI:: NC_000002.12:241601991:C:T
Gene:: THAP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.241601992C>T, NC_000002.11:g.242541407C>T, NM_015963.6:c.1518G>A, NM_015963.5:c.1518G>A, XM_005247016.5:c.1518G>A, XM_005247016.4:c.1839G>A, XM_005247016.3:c.1518G>A, XM_005247016.2:c.1839G>A, XM_005247016.1:c.1839G>A, XM_011511291.3:c.1590G>A, XM_011511291.2:c.1590G>A, XM_011511291.1:c.1590G>A, XM_017004256.2:c.1590G>A, XM_017004256.1:c.1590G>A, NM_001164356.2:c.282G>A, NM_001164356.1:c.282G>A

Select item 14725807163.

rs1472580716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:241606398 (GRCh38)
2:242545813 (GRCh37)
Canonical SPDI:: NC_000002.12:241606397:G:T
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241606398G>T, NC_000002.11:g.242545813G>T, NM_015963.6:c.1316C>A, NM_015963.5:c.1316C>A, XM_005247016.5:c.1316C>A, XM_005247016.4:c.1637C>A, XM_005247016.3:c.1316C>A, XM_005247016.2:c.1637C>A, XM_005247016.1:c.1637C>A, XM_011511291.3:c.1388C>A, XM_011511291.2:c.1388C>A, XM_011511291.1:c.1388C>A, XM_017004256.2:c.1388C>A, XM_017004256.1:c.1388C>A, NM_001164356.2:c.80C>A, NM_001164356.1:c.80C>A, NP_057047.4:p.Ala439Asp, XP_005247073.4:p.Ala439Asp, XP_011509593.1:p.Ala463Asp, XP_016859745.1:p.Ala463Asp, NP_001157828.1:p.Ala27Asp

Select item 14699817304.

rs1469981730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241584696 (GRCh38)
2:242524111 (GRCh37)
Canonical SPDI:: NC_000002.12:241584695:T:C
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.241584696T>C, NC_000002.11:g.242524111T>C, NM_015963.6:c.1644A>G, NM_015963.5:c.1644A>G, XM_005247016.5:c.1725A>G, XM_005247016.4:c.2046A>G, XM_005247016.3:c.1725A>G, XM_005247016.2:c.2046A>G, XM_005247016.1:c.2046A>G, XM_011511291.3:c.1797A>G, XM_011511291.2:c.1797A>G, XM_011511291.1:c.1797A>G, XM_017004256.2:c.1716A>G, XM_017004256.1:c.1716A>G, NM_001164356.2:c.408A>G, NM_001164356.1:c.408A>G

Select item 14686947045.

rs1468694704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:241584719 (GRCh38)
2:242524134 (GRCh37)
Canonical SPDI:: NC_000002.12:241584718:G:A,NC_000002.12:241584718:G:C
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241584719G>A, NC_000002.12:g.241584719G>C, NC_000002.11:g.242524134G>A, NC_000002.11:g.242524134G>C, NM_015963.6:c.1621C>T, NM_015963.6:c.1621C>G, NM_015963.5:c.1621C>T, NM_015963.5:c.1621C>G, XM_005247016.5:c.1702C>T, XM_005247016.5:c.1702C>G, XM_005247016.4:c.2023C>T, XM_005247016.4:c.2023C>G, XM_005247016.3:c.1702C>T, XM_005247016.3:c.1702C>G, XM_005247016.2:c.2023C>T, XM_005247016.2:c.2023C>G, XM_005247016.1:c.2023C>T, XM_005247016.1:c.2023C>G, XM_011511291.3:c.1774C>T, XM_011511291.3:c.1774C>G, XM_011511291.2:c.1774C>T, XM_011511291.2:c.1774C>G, XM_011511291.1:c.1774C>T, XM_011511291.1:c.1774C>G, XM_017004256.2:c.1693C>T, XM_017004256.2:c.1693C>G, XM_017004256.1:c.1693C>T, XM_017004256.1:c.1693C>G, NM_001164356.2:c.385C>T, NM_001164356.2:c.385C>G, NM_001164356.1:c.385C>T, NM_001164356.1:c.385C>G, NP_057047.4:p.Arg541Trp, NP_057047.4:p.Arg541Gly, XP_005247073.4:p.Arg568Trp, XP_005247073.4:p.Arg568Gly, XP_011509593.1:p.Arg592Trp, XP_011509593.1:p.Arg592Gly, XP_016859745.1:p.Arg565Trp, XP_016859745.1:p.Arg565Gly, NP_001157828.1:p.Arg129Trp, NP_001157828.1:p.Arg129Gly

Select item 14663685826.

rs1466368582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241601961 (GRCh38)
2:242541376 (GRCh37)
Canonical SPDI:: NC_000002.12:241601960:C:T
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241601961C>T, NC_000002.11:g.242541376C>T, NM_015963.6:c.1549G>A, NM_015963.5:c.1549G>A, XM_005247016.5:c.1549G>A, XM_005247016.4:c.1870G>A, XM_005247016.3:c.1549G>A, XM_005247016.2:c.1870G>A, XM_005247016.1:c.1870G>A, XM_011511291.3:c.1621G>A, XM_011511291.2:c.1621G>A, XM_011511291.1:c.1621G>A, XM_017004256.2:c.1621G>A, XM_017004256.1:c.1621G>A, NM_001164356.2:c.313G>A, NM_001164356.1:c.313G>A, NP_057047.4:p.Glu517Lys, XP_005247073.4:p.Glu517Lys, XP_011509593.1:p.Glu541Lys, XP_016859745.1:p.Glu541Lys, NP_001157828.1:p.Glu105Lys

Select item 14571759597.

rs1457175959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241606330 (GRCh38)
2:242545745 (GRCh37)
Canonical SPDI:: NC_000002.12:241606329:G:A
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241606330G>A, NC_000002.11:g.242545745G>A, NM_015963.6:c.1384C>T, NM_015963.5:c.1384C>T, XM_005247016.5:c.1384C>T, XM_005247016.4:c.1705C>T, XM_005247016.3:c.1384C>T, XM_005247016.2:c.1705C>T, XM_005247016.1:c.1705C>T, XM_011511291.3:c.1456C>T, XM_011511291.2:c.1456C>T, XM_011511291.1:c.1456C>T, XM_017004256.2:c.1456C>T, XM_017004256.1:c.1456C>T, NM_001164356.2:c.148C>T, NM_001164356.1:c.148C>T, NP_057047.4:p.Pro462Ser, XP_005247073.4:p.Pro462Ser, XP_011509593.1:p.Pro486Ser, XP_016859745.1:p.Pro486Ser, NP_001157828.1:p.Pro50Ser

Select item 14506046218.

rs1450604621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:241584621 (GRCh38)
2:242524036 (GRCh37)
Canonical SPDI:: NC_000002.12:241584620:C:G
Gene:: THAP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241584621C>G, NC_000002.11:g.242524036C>G, NM_015963.6:c.1719G>C, NM_015963.5:c.1719G>C, XM_005247016.5:c.1800G>C, XM_005247016.4:c.2121G>C, XM_005247016.3:c.1800G>C, XM_005247016.2:c.2121G>C, XM_005247016.1:c.2121G>C, XM_011511291.3:c.1872G>C, XM_011511291.2:c.1872G>C, XM_011511291.1:c.1872G>C, XM_017004256.2:c.1791G>C, XM_017004256.1:c.1791G>C, NM_001164356.2:c.483G>C, NM_001164356.1:c.483G>C, NP_057047.4:p.Lys573Asn, XP_005247073.4:p.Lys600Asn, XP_011509593.1:p.Lys624Asn, XP_016859745.1:p.Lys597Asn, NP_001157828.1:p.Lys161Asn

Select item 14262132249.

rs1426213224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241606430 (GRCh38)
2:242545845 (GRCh37)
Canonical SPDI:: NC_000002.12:241606429:C:T
Gene:: THAP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.241606430C>T, NC_000002.11:g.242545845C>T, NM_015963.6:c.1284G>A, NM_015963.5:c.1284G>A, XM_005247016.5:c.1284G>A, XM_005247016.4:c.1605G>A, XM_005247016.3:c.1284G>A, XM_005247016.2:c.1605G>A, XM_005247016.1:c.1605G>A, XM_011511291.3:c.1356G>A, XM_011511291.2:c.1356G>A, XM_011511291.1:c.1356G>A, XM_017004256.2:c.1356G>A, XM_017004256.1:c.1356G>A, NM_001164356.2:c.48G>A, NM_001164356.1:c.48G>A, NP_057047.4:p.Met428Ile, XP_005247073.4:p.Met428Ile, XP_011509593.1:p.Met452Ile, XP_016859745.1:p.Met452Ile, NP_001157828.1:p.Met16Ile

Select item 141637743410.

rs1416377434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241606424 (GRCh38)
2:242545839 (GRCh37)
Canonical SPDI:: NC_000002.12:241606423:G:A
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241606424G>A, NC_000002.11:g.242545839G>A, NM_015963.6:c.1290C>T, NM_015963.5:c.1290C>T, XM_005247016.5:c.1290C>T, XM_005247016.4:c.1611C>T, XM_005247016.3:c.1290C>T, XM_005247016.2:c.1611C>T, XM_005247016.1:c.1611C>T, XM_011511291.3:c.1362C>T, XM_011511291.2:c.1362C>T, XM_011511291.1:c.1362C>T, XM_017004256.2:c.1362C>T, XM_017004256.1:c.1362C>T, NM_001164356.2:c.54C>T, NM_001164356.1:c.54C>T

Select item 141490971711.

rs1414909717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241584709 (GRCh38)
2:242524124 (GRCh37)
Canonical SPDI:: NC_000002.12:241584708:C:T
Gene:: THAP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241584709C>T, NC_000002.11:g.242524124C>T, NM_015963.6:c.1631G>A, NM_015963.5:c.1631G>A, XM_005247016.5:c.1712G>A, XM_005247016.4:c.2033G>A, XM_005247016.3:c.1712G>A, XM_005247016.2:c.2033G>A, XM_005247016.1:c.2033G>A, XM_011511291.3:c.1784G>A, XM_011511291.2:c.1784G>A, XM_011511291.1:c.1784G>A, XM_017004256.2:c.1703G>A, XM_017004256.1:c.1703G>A, NM_001164356.2:c.395G>A, NM_001164356.1:c.395G>A, NP_057047.4:p.Arg544Lys, XP_005247073.4:p.Arg571Lys, XP_011509593.1:p.Arg595Lys, XP_016859745.1:p.Arg568Lys, NP_001157828.1:p.Arg132Lys

Select item 141478332712.

rs1414783327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241606404 (GRCh38)
2:242545819 (GRCh37)
Canonical SPDI:: NC_000002.12:241606403:G:A
Gene:: THAP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.241606404G>A, NC_000002.11:g.242545819G>A, NM_015963.6:c.1310C>T, NM_015963.5:c.1310C>T, XM_005247016.5:c.1310C>T, XM_005247016.4:c.1631C>T, XM_005247016.3:c.1310C>T, XM_005247016.2:c.1631C>T, XM_005247016.1:c.1631C>T, XM_011511291.3:c.1382C>T, XM_011511291.2:c.1382C>T, XM_011511291.1:c.1382C>T, XM_017004256.2:c.1382C>T, XM_017004256.1:c.1382C>T, NM_001164356.2:c.74C>T, NM_001164356.1:c.74C>T, NP_057047.4:p.Pro437Leu, XP_005247073.4:p.Pro437Leu, XP_011509593.1:p.Pro461Leu, XP_016859745.1:p.Pro461Leu, NP_001157828.1:p.Pro25Leu

Select item 141225945413.

rs1412259454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241602980 (GRCh38)
2:242542395 (GRCh37)
Canonical SPDI:: NC_000002.12:241602979:G:A
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.241602980G>A, NC_000002.11:g.242542395G>A, NM_015963.6:c.1500C>T, NM_015963.5:c.1500C>T, XM_005247016.5:c.1500C>T, XM_005247016.4:c.1821C>T, XM_005247016.3:c.1500C>T, XM_005247016.2:c.1821C>T, XM_005247016.1:c.1821C>T, XM_011511291.3:c.1572C>T, XM_011511291.2:c.1572C>T, XM_011511291.1:c.1572C>T, XM_017004256.2:c.1572C>T, XM_017004256.1:c.1572C>T, NM_001164356.2:c.264C>T, NM_001164356.1:c.264C>T

Select item 141041159914.

rs1410411599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:241606328 (GRCh38)
2:242545743 (GRCh37)
Canonical SPDI:: NC_000002.12:241606327:G:A,NC_000002.12:241606327:G:C
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241606328G>A, NC_000002.12:g.241606328G>C, NC_000002.11:g.242545743G>A, NC_000002.11:g.242545743G>C, NM_015963.6:c.1386C>T, NM_015963.6:c.1386C>G, NM_015963.5:c.1386C>T, NM_015963.5:c.1386C>G, XM_005247016.5:c.1386C>T, XM_005247016.5:c.1386C>G, XM_005247016.4:c.1707C>T, XM_005247016.4:c.1707C>G, XM_005247016.3:c.1386C>T, XM_005247016.3:c.1386C>G, XM_005247016.2:c.1707C>T, XM_005247016.2:c.1707C>G, XM_005247016.1:c.1707C>T, XM_005247016.1:c.1707C>G, XM_011511291.3:c.1458C>T, XM_011511291.3:c.1458C>G, XM_011511291.2:c.1458C>T, XM_011511291.2:c.1458C>G, XM_011511291.1:c.1458C>T, XM_011511291.1:c.1458C>G, XM_017004256.2:c.1458C>T, XM_017004256.2:c.1458C>G, XM_017004256.1:c.1458C>T, XM_017004256.1:c.1458C>G, NM_001164356.2:c.150C>T, NM_001164356.2:c.150C>G, NM_001164356.1:c.150C>T, NM_001164356.1:c.150C>G

Select item 140318630715.

rs1403186307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:241606415 (GRCh38)
2:242545830 (GRCh37)
Canonical SPDI:: NC_000002.12:241606414:C:G
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.241606415C>G, NC_000002.11:g.242545830C>G, NM_015963.6:c.1299G>C, NM_015963.5:c.1299G>C, XM_005247016.5:c.1299G>C, XM_005247016.4:c.1620G>C, XM_005247016.3:c.1299G>C, XM_005247016.2:c.1620G>C, XM_005247016.1:c.1620G>C, XM_011511291.3:c.1371G>C, XM_011511291.2:c.1371G>C, XM_011511291.1:c.1371G>C, XM_017004256.2:c.1371G>C, XM_017004256.1:c.1371G>C, NM_001164356.2:c.63G>C, NM_001164356.1:c.63G>C

Select item 138598591616.

rs1385985916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:241584710 (GRCh38)
2:242524125 (GRCh37)
Canonical SPDI:: NC_000002.12:241584709:T:G
Gene:: THAP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.241584710T>G, NC_000002.11:g.242524125T>G, NM_015963.6:c.1630A>C, NM_015963.5:c.1630A>C, XM_005247016.5:c.1711A>C, XM_005247016.4:c.2032A>C, XM_005247016.3:c.1711A>C, XM_005247016.2:c.2032A>C, XM_005247016.1:c.2032A>C, XM_011511291.3:c.1783A>C, XM_011511291.2:c.1783A>C, XM_011511291.1:c.1783A>C, XM_017004256.2:c.1702A>C, XM_017004256.1:c.1702A>C, NM_001164356.2:c.394A>C, NM_001164356.1:c.394A>C

Select item 136876838417.

rs1368768384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241601929 (GRCh38)
2:242541344 (GRCh37)
Canonical SPDI:: NC_000002.12:241601928:C:T
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241601929C>T, NC_000002.11:g.242541344C>T, NM_015963.6:c.1581G>A, NM_015963.5:c.1581G>A, XM_005247016.5:c.1581G>A, XM_005247016.4:c.1902G>A, XM_005247016.3:c.1581G>A, XM_005247016.2:c.1902G>A, XM_005247016.1:c.1902G>A, XM_011511291.3:c.1653G>A, XM_011511291.2:c.1653G>A, XM_011511291.1:c.1653G>A, XM_017004256.2:c.1653G>A, XM_017004256.1:c.1653G>A, NM_001164356.2:c.345G>A, NM_001164356.1:c.345G>A

Select item 136605566418.

rs1366055664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:241606386 (GRCh38)
2:242545801 (GRCh37)
Canonical SPDI:: NC_000002.12:241606385:G:C
Gene:: THAP4 (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_000002.12:g.241606386G>C, NC_000002.11:g.242545801G>C, NM_015963.6:c.1328C>G, NM_015963.5:c.1328C>G, XM_005247016.5:c.1328C>G, XM_005247016.4:c.1649C>G, XM_005247016.3:c.1328C>G, XM_005247016.2:c.1649C>G, XM_005247016.1:c.1649C>G, XM_011511291.3:c.1400C>G, XM_011511291.2:c.1400C>G, XM_011511291.1:c.1400C>G, XM_017004256.2:c.1400C>G, XM_017004256.1:c.1400C>G, NM_001164356.2:c.92C>G, NM_001164356.1:c.92C>G, NP_057047.4:p.Pro443Arg, XP_005247073.4:p.Pro443Arg, XP_011509593.1:p.Pro467Arg, XP_016859745.1:p.Pro467Arg, NP_001157828.1:p.Pro31Arg

Select item 135476948119.

rs1354769481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241601913 (GRCh38)
2:242541328 (GRCh37)
Canonical SPDI:: NC_000002.12:241601912:C:T
Gene:: THAP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.241601913C>T, NC_000002.11:g.242541328C>T, NM_015963.6:c.1597G>A, NM_015963.5:c.1597G>A, XM_005247016.5:c.1597G>A, XM_005247016.4:c.1918G>A, XM_005247016.3:c.1597G>A, XM_005247016.2:c.1918G>A, XM_005247016.1:c.1918G>A, XM_011511291.3:c.1669G>A, XM_011511291.2:c.1669G>A, XM_011511291.1:c.1669G>A, XM_017004256.2:c.1669G>A, XM_017004256.1:c.1669G>A, NM_001164356.2:c.361G>A, NM_001164356.1:c.361G>A, NP_057047.4:p.Glu533Lys, XP_005247073.4:p.Glu533Lys, XP_011509593.1:p.Glu557Lys, XP_016859745.1:p.Glu557Lys, NP_001157828.1:p.Glu121Lys

Select item 134862863820.

rs1348628638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:241606373 (GRCh38)
2:242545788 (GRCh37)
Canonical SPDI:: NC_000002.12:241606372:G:A,NC_000002.12:241606372:G:C
Gene:: THAP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241606373G>A, NC_000002.12:g.241606373G>C, NC_000002.11:g.242545788G>A, NC_000002.11:g.242545788G>C, NM_015963.6:c.1341C>T, NM_015963.6:c.1341C>G, NM_015963.5:c.1341C>T, NM_015963.5:c.1341C>G, XM_005247016.5:c.1341C>T, XM_005247016.5:c.1341C>G, XM_005247016.4:c.1662C>T, XM_005247016.4:c.1662C>G, XM_005247016.3:c.1341C>T, XM_005247016.3:c.1341C>G, XM_005247016.2:c.1662C>T, XM_005247016.2:c.1662C>G, XM_005247016.1:c.1662C>T, XM_005247016.1:c.1662C>G, XM_011511291.3:c.1413C>T, XM_011511291.3:c.1413C>G, XM_011511291.2:c.1413C>T, XM_011511291.2:c.1413C>G, XM_011511291.1:c.1413C>T, XM_011511291.1:c.1413C>G, XM_017004256.2:c.1413C>T, XM_017004256.2:c.1413C>G, XM_017004256.1:c.1413C>T, XM_017004256.1:c.1413C>G, NM_001164356.2:c.105C>T, NM_001164356.2:c.105C>G, NM_001164356.1:c.105C>T, NM_001164356.1:c.105C>G

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 133

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