SNP Links for Protein (Select 1034607115) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 809

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Select item 14880996231.

rs1488099623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1229265 (GRCh38)
19:1229264 (GRCh37)
Canonical SPDI:: NC_000019.10:1229264:A:G
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.1229265A>G, NC_000019.9:g.1229264A>G, NG_007460.2:g.44859A>G, NM_152769.3:c.*1628T>C, XM_017026556.2:c.2236T>C, XM_017026556.1:c.2236T>C, XM_017026555.2:c.2398T>C, XM_017026555.1:c.2398T>C, NM_001393918.1:c.2032T>C, XM_017026558.1:c.1702T>C, XP_016882045.1:p.Phe746Leu, XP_016882044.1:p.Phe800Leu, NP_001380847.1:p.Phe678Leu, XP_016882047.1:p.Phe568Leu

Select item 14867938332.

rs1486793833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:1233488 (GRCh38)
19:1233487 (GRCh37)
Canonical SPDI:: NC_000019.10:1233487:T:C
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1233488T>C, NC_000019.9:g.1233487T>C, NM_152769.3:c.917A>G, NM_152769.2:c.917A>G, XM_017026556.2:c.917A>G, XM_017026556.1:c.917A>G, XM_017026555.2:c.1283A>G, XM_017026555.1:c.1283A>G, NM_001393918.1:c.917A>G, XM_017026558.1:c.383A>G, NP_689982.3:p.Tyr306Cys, XP_016882045.1:p.Tyr306Cys, XP_016882044.1:p.Tyr428Cys, NP_001380847.1:p.Tyr306Cys, XP_016882047.1:p.Tyr128Cys

Select item 14849118793.

rs1484911879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1229843 (GRCh38)
19:1229842 (GRCh37)
Canonical SPDI:: NC_000019.10:1229842:G:A
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.1229843G>A, NC_000019.9:g.1229842G>A, NG_007460.2:g.45437G>A, NM_152769.3:c.*1050C>T, XM_017026556.2:c.1658C>T, XM_017026556.1:c.1658C>T, XM_017026555.2:c.1820C>T, XM_017026555.1:c.1820C>T, NM_001393918.1:c.1454C>T, XM_017026558.1:c.1124C>T, XP_016882045.1:p.Pro553Leu, XP_016882044.1:p.Pro607Leu, NP_001380847.1:p.Pro485Leu, XP_016882047.1:p.Pro375Leu

Select item 14845825504.

rs1484582550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1231214 (GRCh38)
19:1231213 (GRCh37)
Canonical SPDI:: NC_000019.10:1231213:C:A
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.1231214C>A, NC_000019.9:g.1231213C>A, NM_152769.3:c.1041G>T, NM_152769.2:c.1041G>T, XM_017026556.2:c.1041G>T, XM_017026556.1:c.1041G>T, XM_017026555.2:c.1407G>T, XM_017026555.1:c.1407G>T, NM_001393918.1:c.1041G>T, XM_017026558.1:c.507G>T, NP_689982.3:p.Glu347Asp, XP_016882045.1:p.Glu347Asp, XP_016882044.1:p.Glu469Asp, NP_001380847.1:p.Glu347Asp, XP_016882047.1:p.Glu169Asp

Select item 14843527945.

rs1484352794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:1229303 (GRCh38)
19:1229302 (GRCh37)
Canonical SPDI:: NC_000019.10:1229302:A:C
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.1229303A>C, NC_000019.9:g.1229302A>C, NG_007460.2:g.44897A>C, NM_152769.3:c.*1590T>G, XM_017026556.2:c.2198T>G, XM_017026556.1:c.2198T>G, XM_017026555.2:c.2360T>G, XM_017026555.1:c.2360T>G, NM_001393918.1:c.1994T>G, XM_017026558.1:c.1664T>G, XP_016882045.1:p.Val733Gly, XP_016882044.1:p.Val787Gly, NP_001380847.1:p.Val665Gly, XP_016882047.1:p.Val555Gly

Select item 14841401946.

rs1484140194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1231076 (GRCh38)
19:1231075 (GRCh37)
Canonical SPDI:: NC_000019.10:1231075:A:G
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1231076A>G, NC_000019.9:g.1231075A>G, NM_152769.3:c.1179T>C, NM_152769.2:c.1179T>C, XM_017026556.2:c.1179T>C, XM_017026556.1:c.1179T>C, XM_017026558.1:c.645T>C

Select item 14836889567.

rs1483688956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:1229468 (GRCh38)
19:1229467 (GRCh37)
Canonical SPDI:: NC_000019.10:1229467:C:G,NC_000019.10:1229467:C:T
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
G=0.00018/3 (TOMMO)
HGVS:: NC_000019.10:g.1229468C>G, NC_000019.10:g.1229468C>T, NC_000019.9:g.1229467C>G, NC_000019.9:g.1229467C>T, NG_007460.2:g.45062C>G, NG_007460.2:g.45062C>T, NM_152769.3:c.*1425G>C, NM_152769.3:c.*1425G>A, XM_017026556.2:c.2033G>C, XM_017026556.2:c.2033G>A, XM_017026556.1:c.2033G>C, XM_017026556.1:c.2033G>A, XM_017026555.2:c.2195G>C, XM_017026555.2:c.2195G>A, XM_017026555.1:c.2195G>C, XM_017026555.1:c.2195G>A, NM_001393918.1:c.1829G>C, NM_001393918.1:c.1829G>A, XM_017026558.1:c.1499G>C, XM_017026558.1:c.1499G>A, XP_016882045.1:p.Arg678Pro, XP_016882045.1:p.Arg678Gln, XP_016882044.1:p.Arg732Pro, XP_016882044.1:p.Arg732Gln, NP_001380847.1:p.Arg610Pro, NP_001380847.1:p.Arg610Gln, XP_016882047.1:p.Arg500Pro, XP_016882047.1:p.Arg500Gln

Select item 14836136138.

rs1483613613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:1229246 (GRCh38)
19:1229245 (GRCh37)
Canonical SPDI:: NC_000019.10:1229245:T:C,NC_000019.10:1229245:T:G
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000021/2 (GnomAD_exomes)
G=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.1229246T>C, NC_000019.10:g.1229246T>G, NC_000019.9:g.1229245T>C, NC_000019.9:g.1229245T>G, NG_007460.2:g.44840T>C, NG_007460.2:g.44840T>G, NM_152769.3:c.*1647A>G, NM_152769.3:c.*1647A>C, XM_017026556.2:c.2255A>G, XM_017026556.2:c.2255A>C, XM_017026556.1:c.2255A>G, XM_017026556.1:c.2255A>C, XM_017026555.2:c.2417A>G, XM_017026555.2:c.2417A>C, XM_017026555.1:c.2417A>G, XM_017026555.1:c.2417A>C, NM_001393918.1:c.2051A>G, NM_001393918.1:c.2051A>C, XM_017026558.1:c.1721A>G, XM_017026558.1:c.1721A>C, XP_016882045.1:p.Glu752Gly, XP_016882045.1:p.Glu752Ala, XP_016882044.1:p.Glu806Gly, XP_016882044.1:p.Glu806Ala, NP_001380847.1:p.Glu684Gly, NP_001380847.1:p.Glu684Ala, XP_016882047.1:p.Glu574Gly, XP_016882047.1:p.Glu574Ala

Select item 14801266109.

rs1480126610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:1229477 (GRCh38)
19:1229476 (GRCh37)
Canonical SPDI:: NC_000019.10:1229476:C:A,NC_000019.10:1229476:C:G
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1229477C>A, NC_000019.10:g.1229477C>G, NC_000019.9:g.1229476C>A, NC_000019.9:g.1229476C>G, NG_007460.2:g.45071C>A, NG_007460.2:g.45071C>G, NM_152769.3:c.*1416G>T, NM_152769.3:c.*1416G>C, XM_017026556.2:c.2024G>T, XM_017026556.2:c.2024G>C, XM_017026556.1:c.2024G>T, XM_017026556.1:c.2024G>C, XM_017026555.2:c.2186G>T, XM_017026555.2:c.2186G>C, XM_017026555.1:c.2186G>T, XM_017026555.1:c.2186G>C, NM_001393918.1:c.1820G>T, NM_001393918.1:c.1820G>C, XM_017026558.1:c.1490G>T, XM_017026558.1:c.1490G>C, XP_016882045.1:p.Gly675Val, XP_016882045.1:p.Gly675Ala, XP_016882044.1:p.Gly729Val, XP_016882044.1:p.Gly729Ala, NP_001380847.1:p.Gly607Val, NP_001380847.1:p.Gly607Ala, XP_016882047.1:p.Gly497Val, XP_016882047.1:p.Gly497Ala

Select item 147977541210.

rs1479775412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1229215 (GRCh38)
19:1229214 (GRCh37)
Canonical SPDI:: NC_000019.10:1229214:G:A
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1229215G>A, NC_000019.9:g.1229214G>A, NG_007460.2:g.44809G>A, NM_152769.3:c.*1678C>T, XM_017026556.2:c.2286C>T, XM_017026556.1:c.2286C>T, XM_017026555.2:c.2448C>T, XM_017026555.1:c.2448C>T, NM_001393918.1:c.2082C>T, XM_017026558.1:c.1752C>T

Select item 147822192211.

rs1478221922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1233460 (GRCh38)
19:1233459 (GRCh37)
Canonical SPDI:: NC_000019.10:1233459:C:A,NC_000019.10:1233459:C:T
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.1233460C>A, NC_000019.10:g.1233460C>T, NC_000019.9:g.1233459C>A, NC_000019.9:g.1233459C>T, NM_152769.3:c.945G>T, NM_152769.3:c.945G>A, NM_152769.2:c.945G>T, NM_152769.2:c.945G>A, XM_017026556.2:c.945G>T, XM_017026556.2:c.945G>A, XM_017026556.1:c.945G>T, XM_017026556.1:c.945G>A, XM_017026555.2:c.1311G>T, XM_017026555.2:c.1311G>A, XM_017026555.1:c.1311G>T, XM_017026555.1:c.1311G>A, NM_001393918.1:c.945G>T, NM_001393918.1:c.945G>A, XM_017026558.1:c.411G>T, XM_017026558.1:c.411G>A, NP_689982.3:p.Glu315Asp, XP_016882045.1:p.Glu315Asp, XP_016882044.1:p.Glu437Asp, NP_001380847.1:p.Glu315Asp, XP_016882047.1:p.Glu137Asp

Select item 147817179512.

rs1478171795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:1234218 (GRCh38)
19:1234217 (GRCh37)
Canonical SPDI:: NC_000019.10:1234217:T:A
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.1234218T>A, NC_000019.9:g.1234217T>A, NM_152769.3:c.741A>T, NM_152769.2:c.741A>T, XM_017026556.2:c.741A>T, XM_017026556.1:c.741A>T, XM_017026555.2:c.1107A>T, XM_017026555.1:c.1107A>T, NM_001393918.1:c.741A>T, XM_017026558.1:c.207A>T

Select item 147575146913.

rs1475751469 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTG [Show Flanks]
Chromosome:: 19:1230077 (GRCh38)
19:1230077 (GRCh37)
Canonical SPDI:: NC_000019.10:1230077::CTG
Gene:: CBARP (Varview)
Functional Consequence:: inframe_indel,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.1230077_1230078insCTG, NC_000019.9:g.1230076_1230077insCTG, NG_007460.2:g.45671_45672insCTG, NM_152769.3:c.*815_*816insCAG, NM_152769.2:c.*815_*816insCAG, XM_017026556.2:c.1423_1424insCAG, XM_017026556.1:c.1423_1424insCAG, XM_017026555.2:c.1585_1586insCAG, XM_017026555.1:c.1585_1586insCAG, NM_001393918.1:c.1219_1220insCAG, XM_017026558.1:c.889_890insCAG, XP_016882045.1:p.Ser475delinsThrGly, XP_016882044.1:p.Ser529delinsThrGly, NP_001380847.1:p.Ser407delinsThrGly, XP_016882047.1:p.Ser297delinsThrGly

Select item 147570011314.

rs1475700113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:1230016 (GRCh38)
19:1230015 (GRCh37)
Canonical SPDI:: NC_000019.10:1230015:G:A,NC_000019.10:1230015:G:C
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000023/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1230016G>A, NC_000019.10:g.1230016G>C, NC_000019.9:g.1230015G>A, NC_000019.9:g.1230015G>C, NG_007460.2:g.45610G>A, NG_007460.2:g.45610G>C, NM_152769.3:c.*877C>T, NM_152769.3:c.*877C>G, NM_152769.2:c.*877C>T, NM_152769.2:c.*877C>G, XM_017026556.2:c.1485C>T, XM_017026556.2:c.1485C>G, XM_017026556.1:c.1485C>T, XM_017026556.1:c.1485C>G, XM_017026555.2:c.1647C>T, XM_017026555.2:c.1647C>G, XM_017026555.1:c.1647C>T, XM_017026555.1:c.1647C>G, NM_001393918.1:c.1281C>T, NM_001393918.1:c.1281C>G, XM_017026558.1:c.951C>T, XM_017026558.1:c.951C>G

Select item 147488103915.

rs1474881039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:1231073 (GRCh38)
19:1231072 (GRCh37)
Canonical SPDI:: NC_000019.10:1231072:C:G,NC_000019.10:1231072:C:T
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1231073C>G, NC_000019.10:g.1231073C>T, NC_000019.9:g.1231072C>G, NC_000019.9:g.1231072C>T, NM_152769.3:c.1182G>C, NM_152769.3:c.1182G>A, NM_152769.2:c.1182G>C, NM_152769.2:c.1182G>A, XM_017026556.2:c.1182G>C, XM_017026556.2:c.1182G>A, XM_017026556.1:c.1182G>C, XM_017026556.1:c.1182G>A, XM_017026558.1:c.648G>C, XM_017026558.1:c.648G>A, NP_689982.3:p.Arg394Ser, XP_016882045.1:p.Arg394Ser, XP_016882047.1:p.Arg216Ser

Select item 147441109016.

rs1474411090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1229581 (GRCh38)
19:1229580 (GRCh37)
Canonical SPDI:: NC_000019.10:1229580:G:A
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.1229581G>A, NC_000019.9:g.1229580G>A, NG_007460.2:g.45175G>A, NM_152769.3:c.*1312C>T, XM_017026556.2:c.1920C>T, XM_017026556.1:c.1920C>T, XM_017026555.2:c.2082C>T, XM_017026555.1:c.2082C>T, NM_001393918.1:c.1716C>T, XM_017026558.1:c.1386C>T

Select item 147405738517.

rs1474057385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1230087 (GRCh38)
19:1230086 (GRCh37)
Canonical SPDI:: NC_000019.10:1230086:C:T
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000076/1 (GnomAD_exomes)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.1230087C>T, NC_000019.9:g.1230086C>T, NG_007460.2:g.45681C>T, NM_152769.3:c.*806G>A, NM_152769.2:c.*806G>A, XM_017026556.2:c.1414G>A, XM_017026556.1:c.1414G>A, XM_017026555.2:c.1576G>A, XM_017026555.1:c.1576G>A, NM_001393918.1:c.1210G>A, XM_017026558.1:c.880G>A, XP_016882045.1:p.Gly472Ser, XP_016882044.1:p.Gly526Ser, NP_001380847.1:p.Gly404Ser, XP_016882047.1:p.Gly294Ser

Select item 147379165918.

rs1473791659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:1229251 (GRCh38)
19:1229250 (GRCh37)
Canonical SPDI:: NC_000019.10:1229250:G:A,NC_000019.10:1229250:G:C
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1229251G>A, NC_000019.10:g.1229251G>C, NC_000019.9:g.1229250G>A, NC_000019.9:g.1229250G>C, NG_007460.2:g.44845G>A, NG_007460.2:g.44845G>C, NM_152769.3:c.*1642C>T, NM_152769.3:c.*1642C>G, XM_017026556.2:c.2250C>T, XM_017026556.2:c.2250C>G, XM_017026556.1:c.2250C>T, XM_017026556.1:c.2250C>G, XM_017026555.2:c.2412C>T, XM_017026555.2:c.2412C>G, XM_017026555.1:c.2412C>T, XM_017026555.1:c.2412C>G, NM_001393918.1:c.2046C>T, NM_001393918.1:c.2046C>G, XM_017026558.1:c.1716C>T, XM_017026558.1:c.1716C>G

Select item 147199574119.

rs1471995741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1229475 (GRCh38)
19:1229474 (GRCh37)
Canonical SPDI:: NC_000019.10:1229474:C:A,NC_000019.10:1229474:C:T
Gene:: CBARP (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.1229475C>A, NC_000019.10:g.1229475C>T, NC_000019.9:g.1229474C>A, NC_000019.9:g.1229474C>T, NG_007460.2:g.45069C>A, NG_007460.2:g.45069C>T, NM_152769.3:c.*1418G>T, NM_152769.3:c.*1418G>A, XM_017026556.2:c.2026G>T, XM_017026556.2:c.2026G>A, XM_017026556.1:c.2026G>T, XM_017026556.1:c.2026G>A, XM_017026555.2:c.2188G>T, XM_017026555.2:c.2188G>A, XM_017026555.1:c.2188G>T, XM_017026555.1:c.2188G>A, NM_001393918.1:c.1822G>T, NM_001393918.1:c.1822G>A, XM_017026558.1:c.1492G>T, XM_017026558.1:c.1492G>A, XP_016882045.1:p.Ala676Ser, XP_016882045.1:p.Ala676Thr, XP_016882044.1:p.Ala730Ser, XP_016882044.1:p.Ala730Thr, NP_001380847.1:p.Ala608Ser, NP_001380847.1:p.Ala608Thr, XP_016882047.1:p.Ala498Ser, XP_016882047.1:p.Ala498Thr

Select item 147166744520.

rs1471667445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1229797 (GRCh38)
19:1229796 (GRCh37)
Canonical SPDI:: NC_000019.10:1229796:C:T
Gene:: CBARP (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.1229797C>T, NC_000019.9:g.1229796C>T, NG_007460.2:g.45391C>T, NM_152769.3:c.*1096G>A, XM_017026556.2:c.1704G>A, XM_017026556.1:c.1704G>A, XM_017026555.2:c.1866G>A, XM_017026555.1:c.1866G>A, NM_001393918.1:c.1500G>A, XM_017026558.1:c.1170G>A

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