Product Details
- SNP ID
-
rs201069621
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:241073320 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATGGAGGAAGCCCCCAAGCGGGTCA[A/G]CCTGGCCCTCCAGCTCCCTGAACAC
- 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 |
5602 |
Missense Mutation |
AAC,AGC |
N1291S |
NP_001073906.1 |
XM_011510931.2 |
5602 |
Missense Mutation |
AAC,AGC |
N1315S |
XP_011509233.1 |
XM_011510932.2 |
5602 |
Intron |
|
|
XP_011509234.1 |
XM_011510933.2 |
5602 |
Missense Mutation |
AAC,AGC |
N1315S |
XP_011509235.1 |
XM_011510934.2 |
5602 |
Intron |
|
|
XP_011509236.1 |
XM_011510937.2 |
5602 |
Intron |
|
|
XP_011509239.1 |
XM_017003773.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1315S |
XP_016859262.1 |
XM_017003774.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1291S |
XP_016859263.1 |
XM_017003775.1 |
5602 |
Intron |
|
|
XP_016859264.1 |
XM_017003776.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1277S |
XP_016859265.1 |
XM_017003777.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1239S |
XP_016859266.1 |
XM_017003778.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1166S |
XP_016859267.1 |
XM_017003779.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1166S |
XP_016859268.1 |
XM_017003780.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1166S |
XP_016859269.1 |
XM_017003781.1 |
5602 |
Missense Mutation |
AAC,AGC |
N1166S |
XP_016859270.1 |
XM_017003782.1 |
5602 |
Missense Mutation |
AAC,AGC |
N986S |
XP_016859271.1 |
View Full Product Details