Product Details
- SNP ID
-
rs199705076
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:75282301 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCACAGTAACATTTTCTTATGTTT[A/G]TAATAGGCACACTGCCACTTTTGTT
- Phenotype
-
MIM: 607724
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CAPS2
PubMed Links
Gene Details
- Gene
- CAPS2
- Gene Name
- calcyphosine 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001286547.1 |
1669 |
Missense Mutation |
ACA,ATA |
T458I |
NP_001273476.1 |
NM_001286548.1 |
1669 |
Missense Mutation |
ACA,ATA |
T308I |
NP_001273477.1 |
NM_001286549.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
NP_001273478.1 |
NM_032606.3 |
1669 |
Missense Mutation |
ACA,ATA |
T540I |
NP_115995.2 |
XM_005269192.1 |
1669 |
Missense Mutation |
ACA,ATA |
T434I |
XP_005269249.1 |
XM_005269194.3 |
1669 |
Missense Mutation |
ACA,ATA |
T276I |
XP_005269251.1 |
XM_006719648.2 |
1669 |
Missense Mutation |
ACA,ATA |
T540I |
XP_006719711.2 |
XM_006719649.2 |
1669 |
Missense Mutation |
ACA,ATA |
T508I |
XP_006719712.2 |
XM_011538878.1 |
1669 |
Missense Mutation |
ACA,ATA |
T528I |
XP_011537180.1 |
XM_011538886.2 |
1669 |
Missense Mutation |
ACA,ATA |
T502I |
XP_011537188.1 |
XM_011538887.2 |
1669 |
Missense Mutation |
ACA,ATA |
T470I |
XP_011537189.1 |
XM_011538888.1 |
1669 |
Missense Mutation |
ACA,ATA |
T435I |
XP_011537190.1 |
XM_011538889.2 |
1669 |
Missense Mutation |
ACA,ATA |
T528I |
XP_011537191.1 |
XM_011538890.1 |
1669 |
Intron |
|
|
XP_011537192.1 |
XM_011538892.1 |
1669 |
Missense Mutation |
ACA,ATA |
T308I |
XP_011537194.1 |
XM_017020034.1 |
1669 |
Missense Mutation |
ACA,ATA |
T496I |
XP_016875523.1 |
XM_017020035.1 |
1669 |
Missense Mutation |
ACA,ATA |
T403I |
XP_016875524.1 |
XM_017020036.1 |
1669 |
Missense Mutation |
ACA,ATA |
T308I |
XP_016875525.1 |
XM_017020037.1 |
1669 |
Missense Mutation |
ACA,ATA |
T308I |
XP_016875526.1 |
XM_017020038.1 |
1669 |
Missense Mutation |
ACA,ATA |
T308I |
XP_016875527.1 |
XM_017020039.1 |
1669 |
Missense Mutation |
ACA,ATA |
T276I |
XP_016875528.1 |
XM_017020040.1 |
1669 |
Missense Mutation |
ACA,ATA |
T194I |
XP_016875529.1 |
XM_017020041.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
XP_016875530.1 |
XM_017020042.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
XP_016875531.1 |
XM_017020043.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
XP_016875532.1 |
XM_017020044.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
XP_016875533.1 |
XM_017020045.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
XP_016875534.1 |
XM_017020046.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
XP_016875535.1 |
XM_017020047.1 |
1669 |
Missense Mutation |
ACA,ATA |
T130I |
XP_016875536.1 |
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