SNP Links for Protein (Select 4502605) - SNP

Links from Protein

Items: 1 to 20 of 132

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Select item 14540497941.

rs1454049794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42263499 (GRCh38)
3:42304991 (GRCh37)
Canonical SPDI:: NC_000003.12:42263498:C:T
Gene:: CCK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42263499C>T, NC_000003.11:g.42304991C>T, NM_000729.6:c.132G>A, NM_000729.5:c.132G>A, NM_000729.4:c.132G>A, NM_001174138.3:c.132G>A, NM_001174138.2:c.132G>A, NM_001174138.1:c.132G>A

Select item 14522614842.

rs1452261484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42258223 (GRCh38)
3:42299715 (GRCh37)
Canonical SPDI:: NC_000003.12:42258222:C:T
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42258223C>T, NC_000003.11:g.42299715C>T, NM_000729.6:c.223G>A, NM_000729.5:c.223G>A, NM_000729.4:c.223G>A, NM_001174138.3:c.223G>A, NM_001174138.2:c.223G>A, NM_001174138.1:c.223G>A, NP_000720.1:p.Gly75Arg, NP_001167609.1:p.Gly75Arg

Select item 14444846553.

rs1444484655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:42258119 (GRCh38)
3:42299611 (GRCh37)
Canonical SPDI:: NC_000003.12:42258118:C:G
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.42258119C>G, NC_000003.11:g.42299611C>G, NM_000729.6:c.327G>C, NM_000729.5:c.327G>C, NM_000729.4:c.327G>C, NM_001174138.3:c.327G>C, NM_001174138.2:c.327G>C, NM_001174138.1:c.327G>C, NP_000720.1:p.Glu109Asp, NP_001167609.1:p.Glu109Asp

Select item 14424604714.

rs1442460471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42263612 (GRCh38)
3:42305104 (GRCh37)
Canonical SPDI:: NC_000003.12:42263611:G:A
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42263612G>A, NC_000003.11:g.42305104G>A, NM_000729.6:c.19C>T, NM_000729.5:c.19C>T, NM_000729.4:c.19C>T, NM_001174138.3:c.19C>T, NM_001174138.2:c.19C>T, NM_001174138.1:c.19C>T

Select item 14403152525.

rs1440315252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42263571 (GRCh38)
3:42305063 (GRCh37)
Canonical SPDI:: NC_000003.12:42263570:C:T
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_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_000003.12:g.42263571C>T, NC_000003.11:g.42305063C>T, NM_000729.6:c.60G>A, NM_000729.5:c.60G>A, NM_000729.4:c.60G>A, NM_001174138.3:c.60G>A, NM_001174138.2:c.60G>A, NM_001174138.1:c.60G>A

Select item 14391978336.

rs1439197833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:42263604 (GRCh38)
3:42305096 (GRCh37)
Canonical SPDI:: NC_000003.12:42263603:C:A,NC_000003.12:42263603:C:T
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_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_000003.12:g.42263604C>A, NC_000003.12:g.42263604C>T, NC_000003.11:g.42305096C>A, NC_000003.11:g.42305096C>T, NM_000729.6:c.27G>T, NM_000729.6:c.27G>A, NM_000729.5:c.27G>T, NM_000729.5:c.27G>A, NM_000729.4:c.27G>T, NM_000729.4:c.27G>A, NM_001174138.3:c.27G>T, NM_001174138.3:c.27G>A, NM_001174138.2:c.27G>T, NM_001174138.2:c.27G>A, NM_001174138.1:c.27G>T, NM_001174138.1:c.27G>A

Select item 14390927887.

rs1439092788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42263543 (GRCh38)
3:42305035 (GRCh37)
Canonical SPDI:: NC_000003.12:42263542:C:T
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42263543C>T, NC_000003.11:g.42305035C>T, NM_000729.6:c.88G>A, NM_000729.5:c.88G>A, NM_000729.4:c.88G>A, NM_001174138.3:c.88G>A, NM_001174138.2:c.88G>A, NM_001174138.1:c.88G>A, NP_000720.1:p.Gly30Ser, NP_001167609.1:p.Gly30Ser

Select item 14348034528.

rs1434803452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:42263423 (GRCh38)
3:42304915 (GRCh37)
Canonical SPDI:: NC_000003.12:42263422:G:C
Gene:: CCK (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_000003.12:g.42263423G>C, NC_000003.11:g.42304915G>C, NM_000729.6:c.208C>G, NM_000729.5:c.208C>G, NM_000729.4:c.208C>G, NM_001174138.3:c.208C>G, NM_001174138.2:c.208C>G, NM_001174138.1:c.208C>G, NP_000720.1:p.Arg70Gly, NP_001167609.1:p.Arg70Gly

Select item 14314876189.

rs1431487618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42263453 (GRCh38)
3:42304945 (GRCh37)
Canonical SPDI:: NC_000003.12:42263452:C:A
Gene:: CCK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42263453C>A, NC_000003.11:g.42304945C>A, NM_000729.6:c.178G>T, NM_000729.5:c.178G>T, NM_000729.4:c.178G>T, NM_001174138.3:c.178G>T, NM_001174138.2:c.178G>T, NM_001174138.1:c.178G>T, NP_000720.1:p.Ala60Ser, NP_001167609.1:p.Ala60Ser

Select item 142850008510.

rs1428500085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42258138 (GRCh38)
3:42299630 (GRCh37)
Canonical SPDI:: NC_000003.12:42258137:A:G
Gene:: CCK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42258138A>G, NC_000003.11:g.42299630A>G, NM_000729.6:c.308T>C, NM_000729.5:c.308T>C, NM_000729.4:c.308T>C, NM_001174138.3:c.308T>C, NM_001174138.2:c.308T>C, NM_001174138.1:c.308T>C, NP_000720.1:p.Phe103Ser, NP_001167609.1:p.Phe103Ser

Select item 142653940911.

rs1426539409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42263422 (GRCh38)
3:42304914 (GRCh37)
Canonical SPDI:: NC_000003.12:42263421:C:T
Gene:: CCK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.42263422C>T, NC_000003.11:g.42304914C>T, NM_000729.6:c.209G>A, NM_000729.5:c.209G>A, NM_000729.4:c.209G>A, NM_001174138.3:c.209G>A, NM_001174138.2:c.209G>A, NM_001174138.1:c.209G>A, NP_000720.1:p.Arg70Gln, NP_001167609.1:p.Arg70Gln

Select item 141533761312.

rs1415337613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42258112 (GRCh38)
3:42299604 (GRCh37)
Canonical SPDI:: NC_000003.12:42258111:C:T
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.42258112C>T, NC_000003.11:g.42299604C>T, NM_000729.6:c.334G>A, NM_000729.5:c.334G>A, NM_000729.4:c.334G>A, NM_001174138.3:c.334G>A, NM_001174138.2:c.334G>A, NM_001174138.1:c.334G>A, NP_000720.1:p.Glu112Lys, NP_001167609.1:p.Glu112Lys

Select item 141036370013.

rs1410363700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:42263517 (GRCh38)
3:42305009 (GRCh37)
Canonical SPDI:: NC_000003.12:42263516:C:G
Gene:: CCK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42263517C>G, NC_000003.11:g.42305009C>G, NM_000729.6:c.114G>C, NM_000729.5:c.114G>C, NM_000729.4:c.114G>C, NM_001174138.3:c.114G>C, NM_001174138.2:c.114G>C, NM_001174138.1:c.114G>C, NP_000720.1:p.Glu38Asp, NP_001167609.1:p.Glu38Asp

Select item 140587969614.

rs1405879696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42263590 (GRCh38)
3:42305082 (GRCh37)
Canonical SPDI:: NC_000003.12:42263589:A:G
Gene:: CCK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42263590A>G, NC_000003.11:g.42305082A>G, NM_000729.6:c.41T>C, NM_000729.5:c.41T>C, NM_000729.4:c.41T>C, NM_001174138.3:c.41T>C, NM_001174138.2:c.41T>C, NM_001174138.1:c.41T>C, NP_000720.1:p.Leu14Pro, NP_001167609.1:p.Leu14Pro

Select item 139537679715.

rs1395376797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:42258218 (GRCh38)
3:42299710 (GRCh37)
Canonical SPDI:: NC_000003.12:42258217:T:C,NC_000003.12:42258217:T:G
Gene:: CCK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.42258218T>C, NC_000003.12:g.42258218T>G, NC_000003.11:g.42299710T>C, NC_000003.11:g.42299710T>G, NM_000729.6:c.228A>G, NM_000729.6:c.228A>C, NM_000729.5:c.228A>G, NM_000729.5:c.228A>C, NM_000729.4:c.228A>G, NM_000729.4:c.228A>C, NM_001174138.3:c.228A>G, NM_001174138.3:c.228A>C, NM_001174138.2:c.228A>G, NM_001174138.2:c.228A>C, NM_001174138.1:c.228A>G, NM_001174138.1:c.228A>C

Select item 138571099916.

rs1385710999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:42263618 (GRCh38)
3:42305110 (GRCh37)
Canonical SPDI:: NC_000003.12:42263617:C:G,NC_000003.12:42263617:C:T
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.42263618C>G, NC_000003.12:g.42263618C>T, NC_000003.11:g.42305110C>G, NC_000003.11:g.42305110C>T, NM_000729.6:c.13G>C, NM_000729.6:c.13G>A, NM_000729.5:c.13G>C, NM_000729.5:c.13G>A, NM_000729.4:c.13G>C, NM_000729.4:c.13G>A, NM_001174138.3:c.13G>C, NM_001174138.3:c.13G>A, NM_001174138.2:c.13G>C, NM_001174138.2:c.13G>A, NM_001174138.1:c.13G>C, NM_001174138.1:c.13G>A, NP_000720.1:p.Val5Leu, NP_000720.1:p.Val5Met, NP_001167609.1:p.Val5Leu, NP_001167609.1:p.Val5Met

Select item 138504289917.

rs1385042899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42258180 (GRCh38)
3:42299672 (GRCh37)
Canonical SPDI:: NC_000003.12:42258179:C:T
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42258180C>T, NC_000003.11:g.42299672C>T, NM_000729.6:c.266G>A, NM_000729.5:c.266G>A, NM_000729.4:c.266G>A, NM_001174138.3:c.266G>A, NM_001174138.2:c.266G>A, NM_001174138.1:c.266G>A, NP_000720.1:p.Ser89Asn, NP_001167609.1:p.Ser89Asn

Select item 137982393518.

rs1379823935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42258153 (GRCh38)
3:42299645 (GRCh37)
Canonical SPDI:: NC_000003.12:42258152:A:G
Gene:: CCK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42258153A>G, NC_000003.11:g.42299645A>G, NM_000729.6:c.293T>C, NM_000729.5:c.293T>C, NM_000729.4:c.293T>C, NM_001174138.3:c.293T>C, NM_001174138.2:c.293T>C, NM_001174138.1:c.293T>C, NP_000720.1:p.Met98Thr, NP_001167609.1:p.Met98Thr

Select item 137633158319.

rs1376331583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:42263435 (GRCh38)
3:42304927 (GRCh37)
Canonical SPDI:: NC_000003.12:42263434:T:A
Gene:: CCK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42263435T>A, NC_000003.11:g.42304927T>A, NM_000729.6:c.196A>T, NM_000729.5:c.196A>T, NM_000729.4:c.196A>T, NM_001174138.3:c.196A>T, NM_001174138.2:c.196A>T, NM_001174138.1:c.196A>T, NP_000720.1:p.Ile66Phe, NP_001167609.1:p.Ile66Phe

Select item 136253363420.

rs1362533634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42263450 (GRCh38)
3:42304942 (GRCh37)
Canonical SPDI:: NC_000003.12:42263449:G:A
Gene:: CCK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.42263450G>A, NC_000003.11:g.42304942G>A, NM_000729.6:c.181C>T, NM_000729.5:c.181C>T, NM_000729.4:c.181C>T, NM_001174138.3:c.181C>T, NM_001174138.2:c.181C>T, NM_001174138.1:c.181C>T

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