Product Details
- SNP ID
-
rs200086755
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:38392639 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCCCATTTAAATAAGACATGTATG[A/G]AGAACTATGAGAGCAAGAAGTACTC
- Phenotype
-
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LETM2
PubMed Links
Gene Details
- Gene
- LETM2
- Gene Name
- leucine zipper and EF-hand containing transmembrane protein 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001199659.2 |
307 |
Missense Mutation |
AAG,GAG |
K2E |
NP_001186588.1 |
NM_001199660.2 |
307 |
UTR 5 |
|
|
NP_001186589.1 |
NM_001286787.1 |
307 |
UTR 5 |
|
|
NP_001273716.1 |
NM_001286819.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
NP_001273748.1 |
NM_001286821.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
NP_001273750.1 |
NM_144652.3 |
307 |
Missense Mutation |
AAG,GAG |
K2E |
NP_653253.1 |
XM_006716291.3 |
307 |
UTR 5 |
|
|
XP_006716354.1 |
XM_011544406.1 |
307 |
Missense Mutation |
AAG,GAG |
K2E |
XP_011542708.1 |
XM_011544407.1 |
307 |
Missense Mutation |
AAG,GAG |
K2E |
XP_011542709.1 |
XM_011544408.2 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_011542710.1 |
XM_011544409.2 |
307 |
UTR 5 |
|
|
XP_011542711.1 |
XM_011544410.2 |
307 |
Intron |
|
|
XP_011542712.1 |
XM_017013051.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_016868540.1 |
XM_017013052.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_016868541.1 |
XM_017013053.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_016868542.1 |
XM_017013054.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_016868543.1 |
XM_017013055.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_016868544.1 |
XM_017013056.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_016868545.1 |
XM_017013057.1 |
307 |
Missense Mutation |
AAG,GAG |
K49E |
XP_016868546.1 |
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