Product Details
- SNP ID
-
rs148598016
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:43528891 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCCGGAGGAAGTCGTTGTAGGAGA[C/T]TTTTGAAGACAGCGTCTTATCGTAA
- Phenotype
-
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EFCAB6
PubMed Links
Gene Details
- Gene
- EFCAB6
- Gene Name
- EF-hand calcium binding domain 6
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_022785.3 |
4738 |
Missense Mutation |
ATC,GTC |
I1490V |
NP_073622.2 |
NM_198856.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1338V |
NP_942153.1 |
XM_005261704.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1576V |
XP_005261761.1 |
XM_005261705.3 |
4738 |
Missense Mutation |
ATC,GTC |
I1470V |
XP_005261762.1 |
XM_011530316.1 |
4738 |
Missense Mutation |
ATC,GTC |
I1602V |
XP_011528618.1 |
XM_011530317.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1576V |
XP_011528619.1 |
XM_011530318.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1550V |
XP_011528620.1 |
XM_011530319.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1470V |
XP_011528621.1 |
XM_011530320.2 |
4738 |
UTR 3 |
|
|
XP_011528622.1 |
XM_011530321.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1424V |
XP_011528623.1 |
XM_011530322.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1424V |
XP_011528624.1 |
XM_011530323.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1422V |
XP_011528625.1 |
XM_011530325.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1328V |
XP_011528627.1 |
XM_011530326.2 |
4738 |
Intron |
|
|
XP_011528628.1 |
XM_011530327.2 |
4738 |
Missense Mutation |
ATC,GTC |
I1268V |
XP_011528629.1 |
XM_011530328.2 |
4738 |
Intron |
|
|
XP_011528630.1 |
XM_011530329.1 |
4738 |
Missense Mutation |
ATC,GTC |
I874V |
XP_011528631.1 |
XM_011530330.2 |
4738 |
Intron |
|
|
XP_011528632.1 |
XM_017028910.1 |
4738 |
Missense Mutation |
ATC,GTC |
I1602V |
XP_016884399.1 |
XM_017028911.1 |
4738 |
Missense Mutation |
ATC,GTC |
I1516V |
XP_016884400.1 |
XM_017028912.1 |
4738 |
Missense Mutation |
ATC,GTC |
I1418V |
XP_016884401.1 |
- Gene
- EFCAB6-AS1
- Gene Name
- EFCAB6 antisense RNA 1
There are no transcripts associated with this gene.
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