Product Details
- SNP ID
-
rs6721345
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:241073314 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- GAGAACATGGAGGAAGCCCCCAAGC[A/G]GGTCAGCCTGGCCCTCCAGCTCCCT
- Phenotype
-
MIM: 615393
MIM: 616634
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MTERF4
PubMed Links
Gene Details
- Gene
- MTERF4
- Gene Name
- mitochondrial transcription termination factor 4
- Gene
- SNED1
- Gene Name
- sushi, nidogen and EGF like domains 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001080437.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1289R |
NP_001073906.1 |
XM_011510931.2 |
5608 |
Missense Mutation |
CAG,CGG |
Q1313R |
XP_011509233.1 |
XM_011510932.2 |
5608 |
Intron |
|
|
XP_011509234.1 |
XM_011510933.2 |
5608 |
Missense Mutation |
CAG,CGG |
Q1313R |
XP_011509235.1 |
XM_011510934.2 |
5608 |
Intron |
|
|
XP_011509236.1 |
XM_011510937.2 |
5608 |
Intron |
|
|
XP_011509239.1 |
XM_017003773.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1313R |
XP_016859262.1 |
XM_017003774.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1289R |
XP_016859263.1 |
XM_017003775.1 |
5608 |
Intron |
|
|
XP_016859264.1 |
XM_017003776.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1275R |
XP_016859265.1 |
XM_017003777.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1237R |
XP_016859266.1 |
XM_017003778.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1164R |
XP_016859267.1 |
XM_017003779.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1164R |
XP_016859268.1 |
XM_017003780.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1164R |
XP_016859269.1 |
XM_017003781.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q1164R |
XP_016859270.1 |
XM_017003782.1 |
5608 |
Missense Mutation |
CAG,CGG |
Q984R |
XP_016859271.1 |
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