Product Details
- SNP ID
-
rs149943854
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:202941943 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GATTCATTAAGAGTCAACCATAATG[A/G]CGGTGAAGAGTCAAAAACCAGTGCT
- Phenotype
-
MIM: 607586
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
CARF
PubMed Links
Gene Details
- Gene
- CARF
- Gene Name
- calcium responsive transcription factor
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001104586.2 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
NP_001098056.1 |
NM_001282910.1 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
NP_001269839.1 |
NM_001282911.1 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
NP_001269840.1 |
NM_001282912.1 |
364 |
Intron |
|
|
NP_001269841.1 |
NM_001322427.1 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
NP_001309356.1 |
NM_001322428.1 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
NP_001309357.1 |
NM_001322429.1 |
364 |
Intron |
|
|
NP_001309358.1 |
NM_001322430.1 |
364 |
UTR 5 |
|
|
NP_001309359.1 |
NM_024744.15 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
NP_079020.13 |
XM_005246858.3 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
XP_005246915.1 |
XM_005246859.3 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
XP_005246916.1 |
XM_005246864.3 |
364 |
Intron |
|
|
XP_005246921.1 |
XM_006712760.2 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
XP_006712823.1 |
XM_011511867.2 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
XP_011510169.1 |
XM_011511868.2 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
XP_011510170.1 |
XM_011511869.2 |
364 |
Intron |
|
|
XP_011510171.1 |
XM_017004961.1 |
364 |
Missense Mutation |
GAC,GGC |
D14G |
XP_016860450.1 |
XM_017004962.1 |
364 |
Intron |
|
|
XP_016860451.1 |
XM_017004963.1 |
364 |
Intron |
|
|
XP_016860452.1 |
XM_017004964.1 |
364 |
Intron |
|
|
XP_016860453.1 |
XM_017004965.1 |
364 |
Intron |
|
|
XP_016860454.1 |
XM_017004966.1 |
364 |
Intron |
|
|
XP_016860455.1 |
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