SNP Links for Protein (Select 524589096) - SNP

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Links from Protein

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Select item 14889308781.

rs1488930878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:178807428 (GRCh38)
3:178525216 (GRCh37)
Canonical SPDI:: NC_000003.12:178807427:G:A
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000003.12:g.178807428G>A, NC_000003.11:g.178525216G>A, NM_005832.5:c.19G>A, NM_005832.4:c.19G>A, XM_011512325.3:c.19G>A, XM_011512325.2:c.19G>A, XM_011512325.1:c.19G>A, NM_181361.3:c.19G>A, NM_181361.2:c.19G>A, NM_001278911.2:c.19G>A, NM_001278911.1:c.19G>A, NP_005823.1:p.Gly7Ser, XP_011510627.1:p.Gly7Ser, NP_852006.1:p.Gly7Ser, NP_001265840.1:p.Gly7Ser

Select item 14877021622.

rs1487702162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:178825654 (GRCh38)
3:178543442 (GRCh37)
Canonical SPDI:: NC_000003.12:178825653:G:A
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.178825654G>A, NC_000003.11:g.178543442G>A, NM_005832.5:c.123G>A, NM_005832.4:c.123G>A, XM_011512325.3:c.123G>A, XM_011512325.2:c.123G>A, XM_011512325.1:c.123G>A, NM_181361.3:c.123G>A, NM_181361.2:c.123G>A, NM_001278911.2:c.123G>A, NM_001278911.1:c.123G>A

Select item 14857407333.

rs1485740733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:178842923 (GRCh38)
3:178560711 (GRCh37)
Canonical SPDI:: NC_000003.12:178842922:C:T
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.178842923C>T, NC_000003.11:g.178560711C>T, NM_005832.5:c.694C>T, NM_005832.4:c.694C>T, XM_011512325.3:c.694C>T, XM_011512325.2:c.694C>T, XM_011512325.1:c.694C>T, NM_181361.3:c.694C>T, NM_181361.2:c.694C>T, NM_001278911.2:c.694C>T, NM_001278911.1:c.694C>T, NP_005823.1:p.Arg232Trp, XP_011510627.1:p.Arg232Trp, NP_852006.1:p.Arg232Trp, NP_001265840.1:p.Arg232Trp

Select item 14760577394.

rs1476057739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:178828183 (GRCh38)
3:178545971 (GRCh37)
Canonical SPDI:: NC_000003.12:178828182:G:A
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.178828183G>A, NC_000003.11:g.178545971G>A, NM_005832.5:c.233G>A, NM_005832.4:c.233G>A, XM_011512325.3:c.233G>A, XM_011512325.2:c.233G>A, XM_011512325.1:c.233G>A, NM_181361.3:c.233G>A, NM_181361.2:c.233G>A, NM_001278911.2:c.233G>A, NM_001278911.1:c.233G>A, NP_005823.1:p.Trp78Ter, XP_011510627.1:p.Trp78Ter, NP_852006.1:p.Trp78Ter, NP_001265840.1:p.Trp78Ter

Select item 14757358305.

rs1475735830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:178842741 (GRCh38)
3:178560529 (GRCh37)
Canonical SPDI:: NC_000003.12:178842740:A:G
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.178842741A>G, NC_000003.11:g.178560529A>G, NM_005832.5:c.512A>G, NM_005832.4:c.512A>G, XM_011512325.3:c.512A>G, XM_011512325.2:c.512A>G, XM_011512325.1:c.512A>G, NM_181361.3:c.512A>G, NM_181361.2:c.512A>G, NM_001278911.2:c.512A>G, NM_001278911.1:c.512A>G, NP_005823.1:p.His171Arg, XP_011510627.1:p.His171Arg, NP_852006.1:p.His171Arg, NP_001265840.1:p.His171Arg

Select item 14753648576.

rs1475364857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:178842878 (GRCh38)
3:178560666 (GRCh37)
Canonical SPDI:: NC_000003.12:178842877:G:T
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.178842878G>T, NC_000003.11:g.178560666G>T, NM_005832.5:c.649G>T, NM_005832.4:c.649G>T, XM_011512325.3:c.649G>T, XM_011512325.2:c.649G>T, XM_011512325.1:c.649G>T, NM_181361.3:c.649G>T, NM_181361.2:c.649G>T, NM_001278911.2:c.649G>T, NM_001278911.1:c.649G>T, NP_005823.1:p.Val217Leu, XP_011510627.1:p.Val217Leu, NP_852006.1:p.Val217Leu, NP_001265840.1:p.Val217Leu

Select item 14679311887.

rs1467931188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:178825612 (GRCh38)
3:178543400 (GRCh37)
Canonical SPDI:: NC_000003.12:178825611:C:A,NC_000003.12:178825611:C:T
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.178825612C>A, NC_000003.12:g.178825612C>T, NC_000003.11:g.178543400C>A, NC_000003.11:g.178543400C>T, NM_005832.5:c.81C>A, NM_005832.5:c.81C>T, NM_005832.4:c.81C>A, NM_005832.4:c.81C>T, XM_011512325.3:c.81C>A, XM_011512325.3:c.81C>T, XM_011512325.2:c.81C>A, XM_011512325.2:c.81C>T, XM_011512325.1:c.81C>A, XM_011512325.1:c.81C>T, NM_181361.3:c.81C>A, NM_181361.3:c.81C>T, NM_181361.2:c.81C>A, NM_181361.2:c.81C>T, NM_001278911.2:c.81C>A, NM_001278911.2:c.81C>T, NM_001278911.1:c.81C>A, NM_001278911.1:c.81C>T, NP_005823.1:p.Asp27Glu, XP_011510627.1:p.Asp27Glu, NP_852006.1:p.Asp27Glu, NP_001265840.1:p.Asp27Glu

Select item 14582903398.

rs1458290339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:178828284 (GRCh38)
3:178546072 (GRCh37)
Canonical SPDI:: NC_000003.12:178828283:C:G
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.178828284C>G, NC_000003.11:g.178546072C>G, NM_005832.5:c.334C>G, NM_005832.4:c.334C>G, XM_011512325.3:c.334C>G, XM_011512325.2:c.334C>G, XM_011512325.1:c.334C>G, NM_181361.3:c.334C>G, NM_181361.2:c.334C>G, NM_001278911.2:c.334C>G, NM_001278911.1:c.334C>G, NP_005823.1:p.Pro112Ala, XP_011510627.1:p.Pro112Ala, NP_852006.1:p.Pro112Ala, NP_001265840.1:p.Pro112Ala

Select item 14544820839.

rs1454482083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:178825668 (GRCh38)
3:178543456 (GRCh37)
Canonical SPDI:: NC_000003.12:178825667:G:A,NC_000003.12:178825667:G:C
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.178825668G>A, NC_000003.12:g.178825668G>C, NC_000003.11:g.178543456G>A, NC_000003.11:g.178543456G>C, NM_005832.5:c.137G>A, NM_005832.5:c.137G>C, NM_005832.4:c.137G>A, NM_005832.4:c.137G>C, XM_011512325.3:c.137G>A, XM_011512325.3:c.137G>C, XM_011512325.2:c.137G>A, XM_011512325.2:c.137G>C, XM_011512325.1:c.137G>A, XM_011512325.1:c.137G>C, NM_181361.3:c.137G>A, NM_181361.3:c.137G>C, NM_181361.2:c.137G>A, NM_181361.2:c.137G>C, NM_001278911.2:c.137G>A, NM_001278911.2:c.137G>C, NM_001278911.1:c.137G>A, NM_001278911.1:c.137G>C, NP_005823.1:p.Arg46Gln, NP_005823.1:p.Arg46Pro, XP_011510627.1:p.Arg46Gln, XP_011510627.1:p.Arg46Pro, NP_852006.1:p.Arg46Gln, NP_852006.1:p.Arg46Pro, NP_001265840.1:p.Arg46Gln, NP_001265840.1:p.Arg46Pro

Select item 144734936910.

rs1447349369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:178828366 (GRCh38)
3:178546154 (GRCh37)
Canonical SPDI:: NC_000003.12:178828365:A:G
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.178828366A>G, NC_000003.11:g.178546154A>G, NM_005832.5:c.416A>G, NM_005832.4:c.416A>G, XM_011512325.3:c.416A>G, XM_011512325.2:c.416A>G, XM_011512325.1:c.416A>G, NM_181361.3:c.416A>G, NM_181361.2:c.416A>G, NM_001278911.2:c.416A>G, NM_001278911.1:c.416A>G, NP_005823.1:p.Asn139Ser, XP_011510627.1:p.Asn139Ser, NP_852006.1:p.Asn139Ser, NP_001265840.1:p.Asn139Ser

Select item 144331321611.

rs1443313216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:178825723 (GRCh38)
3:178543511 (GRCh37)
Canonical SPDI:: NC_000003.12:178825722:G:C
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.178825723G>C, NC_000003.11:g.178543511G>C, NM_005832.5:c.192G>C, NM_005832.4:c.192G>C, XM_011512325.3:c.192G>C, XM_011512325.2:c.192G>C, XM_011512325.1:c.192G>C, NM_181361.3:c.192G>C, NM_181361.2:c.192G>C, NM_001278911.2:c.192G>C, NM_001278911.1:c.192G>C

Select item 144211854012.

rs1442118540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:178807416 (GRCh38)
3:178525204 (GRCh37)
Canonical SPDI:: NC_000003.12:178807415:A:G,NC_000003.12:178807415:A:T
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000003.12:g.178807416A>G, NC_000003.12:g.178807416A>T, NC_000003.11:g.178525204A>G, NC_000003.11:g.178525204A>T, NM_005832.5:c.7A>G, NM_005832.5:c.7A>T, NM_005832.4:c.7A>G, NM_005832.4:c.7A>T, XM_011512325.3:c.7A>G, XM_011512325.3:c.7A>T, XM_011512325.2:c.7A>G, XM_011512325.2:c.7A>T, XM_011512325.1:c.7A>G, XM_011512325.1:c.7A>T, NM_181361.3:c.7A>G, NM_181361.3:c.7A>T, NM_181361.2:c.7A>G, NM_181361.2:c.7A>T, NM_001278911.2:c.7A>G, NM_001278911.2:c.7A>T, NM_001278911.1:c.7A>G, NM_001278911.1:c.7A>T, NP_005823.1:p.Ile3Val, NP_005823.1:p.Ile3Leu, XP_011510627.1:p.Ile3Val, XP_011510627.1:p.Ile3Leu, NP_852006.1:p.Ile3Val, NP_852006.1:p.Ile3Leu, NP_001265840.1:p.Ile3Val, NP_001265840.1:p.Ile3Leu

Select item 144045655513.

rs1440456555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:178828268 (GRCh38)
3:178546056 (GRCh37)
Canonical SPDI:: NC_000003.12:178828267:G:C
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000003.12:g.178828268G>C, NC_000003.11:g.178546056G>C, NM_005832.5:c.318G>C, NM_005832.4:c.318G>C, XM_011512325.3:c.318G>C, XM_011512325.2:c.318G>C, XM_011512325.1:c.318G>C, NM_181361.3:c.318G>C, NM_181361.2:c.318G>C, NM_001278911.2:c.318G>C, NM_001278911.1:c.318G>C, NP_005823.1:p.Trp106Cys, XP_011510627.1:p.Trp106Cys, NP_852006.1:p.Trp106Cys, NP_001265840.1:p.Trp106Cys

Select item 143845433014.

rs1438454330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:178825616 (GRCh38)
3:178543404 (GRCh37)
Canonical SPDI:: NC_000003.12:178825615:G:A
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.178825616G>A, NC_000003.11:g.178543404G>A, NM_005832.5:c.85G>A, NM_005832.4:c.85G>A, XM_011512325.3:c.85G>A, XM_011512325.2:c.85G>A, XM_011512325.1:c.85G>A, NM_181361.3:c.85G>A, NM_181361.2:c.85G>A, NM_001278911.2:c.85G>A, NM_001278911.1:c.85G>A, NP_005823.1:p.Asp29Asn, XP_011510627.1:p.Asp29Asn, NP_852006.1:p.Asp29Asn, NP_001265840.1:p.Asp29Asn

Select item 143810761015.

rs1438107610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:178807454 (GRCh38)
3:178525242 (GRCh37)
Canonical SPDI:: NC_000003.12:178807453:T:G
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.178807454T>G, NC_000003.11:g.178525242T>G, NM_005832.5:c.45T>G, NM_005832.4:c.45T>G, XM_011512325.3:c.45T>G, XM_011512325.2:c.45T>G, XM_011512325.1:c.45T>G, NM_181361.3:c.45T>G, NM_181361.2:c.45T>G, NM_001278911.2:c.45T>G, NM_001278911.1:c.45T>G, NP_005823.1:p.His15Gln, XP_011510627.1:p.His15Gln, NP_852006.1:p.His15Gln, NP_001265840.1:p.His15Gln

Select item 143417587816.

rs1434175878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:178828298 (GRCh38)
3:178546086 (GRCh37)
Canonical SPDI:: NC_000003.12:178828297:G:C
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.178828298G>C, NC_000003.11:g.178546086G>C, NM_005832.5:c.348G>C, NM_005832.4:c.348G>C, XM_011512325.3:c.348G>C, XM_011512325.2:c.348G>C, XM_011512325.1:c.348G>C, NM_181361.3:c.348G>C, NM_181361.2:c.348G>C, NM_001278911.2:c.348G>C, NM_001278911.1:c.348G>C

Select item 142517459317.

rs1425174593 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:178842779 (GRCh38)
3:178560567 (GRCh37)
Canonical SPDI:: NC_000003.12:178842776:AGAG:AG
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.178842777AG[1], NC_000003.11:g.178560565AG[1], NM_005832.5:c.550_551del, NM_005832.4:c.550_551del, XM_011512325.3:c.550_551del, XM_011512325.2:c.550_551del, XM_011512325.1:c.550_551del, NM_181361.3:c.550_551del, NM_181361.2:c.550_551del, NM_001278911.2:c.550_551del, NM_001278911.1:c.550_551del, NP_005823.1:p.Ser184fs, XP_011510627.1:p.Ser184fs, NP_852006.1:p.Ser184fs, NP_001265840.1:p.Ser184fs

Select item 141759034418.

rs1417590344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:178828351 (GRCh38)
3:178546139 (GRCh37)
Canonical SPDI:: NC_000003.12:178828350:A:T
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.178828351A>T, NC_000003.11:g.178546139A>T, NM_005832.5:c.401A>T, NM_005832.4:c.401A>T, XM_011512325.3:c.401A>T, XM_011512325.2:c.401A>T, XM_011512325.1:c.401A>T, NM_181361.3:c.401A>T, NM_181361.2:c.401A>T, NM_001278911.2:c.401A>T, NM_001278911.1:c.401A>T, NP_005823.1:p.Glu134Val, XP_011510627.1:p.Glu134Val, NP_852006.1:p.Glu134Val, NP_001265840.1:p.Glu134Val

Select item 141513805819.

rs1415138058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:178842781 (GRCh38)
3:178560569 (GRCh37)
Canonical SPDI:: NC_000003.12:178842780:T:C,NC_000003.12:178842780:T:G
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.178842781T>C, NC_000003.12:g.178842781T>G, NC_000003.11:g.178560569T>C, NC_000003.11:g.178560569T>G, NM_005832.5:c.552T>C, NM_005832.5:c.552T>G, NM_005832.4:c.552T>C, NM_005832.4:c.552T>G, XM_011512325.3:c.552T>C, XM_011512325.3:c.552T>G, XM_011512325.2:c.552T>C, XM_011512325.2:c.552T>G, XM_011512325.1:c.552T>C, XM_011512325.1:c.552T>G, NM_181361.3:c.552T>C, NM_181361.3:c.552T>G, NM_181361.2:c.552T>C, NM_181361.2:c.552T>G, NM_001278911.2:c.552T>C, NM_001278911.2:c.552T>G, NM_001278911.1:c.552T>C, NM_001278911.1:c.552T>G, NP_005823.1:p.Ser184Arg, XP_011510627.1:p.Ser184Arg, NP_852006.1:p.Ser184Arg, NP_001265840.1:p.Ser184Arg

Select item 141324517620.

rs1413245176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:178828195 (GRCh38)
3:178545983 (GRCh37)
Canonical SPDI:: NC_000003.12:178828194:C:T
Gene:: KCNMB2 (Varview), KCNMB2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.178828195C>T, NC_000003.11:g.178545983C>T, NM_005832.5:c.245C>T, NM_005832.4:c.245C>T, XM_011512325.3:c.245C>T, XM_011512325.2:c.245C>T, XM_011512325.1:c.245C>T, NM_181361.3:c.245C>T, NM_181361.2:c.245C>T, NM_001278911.2:c.245C>T, NM_001278911.1:c.245C>T, NP_005823.1:p.Ser82Phe, XP_011510627.1:p.Ser82Phe, NP_852006.1:p.Ser82Phe, NP_001265840.1:p.Ser82Phe

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