Product Details
- SNP ID
-
rs199784030
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:67207991 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGCAGTGACTCAGCGCCAAGTGCT[C/T]CAGGCTAGGACAGCCCCTGGCCACA
- Phenotype
-
MIM: 600659
MIM: 606422
MIM: 613701
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
E2F4
PubMed Links
Gene Details
- Gene
- E2F4
- Gene Name
- E2F transcription factor 4
There are no transcripts associated with this gene.
- Gene
- ELMO3
- Gene Name
- engulfment and cell motility 3
There are no transcripts associated with this gene.
- Gene
- LOC105369155
- Gene Name
- uncharacterized LOC105369155
There are no transcripts associated with this gene.
- Gene
- LRRC29
- Gene Name
- leucine rich repeat containing 29
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001004055.1 |
765 |
Missense Mutation |
AAG,GAG |
K129E |
NP_001004055.1 |
| NM_012163.2 |
765 |
Missense Mutation |
AAG,GAG |
K129E |
NP_036295.1 |
| XM_017023126.1 |
765 |
Missense Mutation |
AAG,GAG |
K242E |
XP_016878615.1 |
| XM_017023127.1 |
765 |
Missense Mutation |
AAG,GAG |
K242E |
XP_016878616.1 |
| XM_017023128.1 |
765 |
Missense Mutation |
AAG,GAG |
K242E |
XP_016878617.1 |
| XM_017023129.1 |
765 |
Missense Mutation |
AAG,GAG |
K242E |
XP_016878618.1 |
| XM_017023130.1 |
765 |
Missense Mutation |
AAG,GAG |
K153E |
XP_016878619.1 |
| XM_017023131.1 |
765 |
Missense Mutation |
AAG,GAG |
K129E |
XP_016878620.1 |
| XM_017023132.1 |
765 |
Missense Mutation |
AAG,GAG |
K129E |
XP_016878621.1 |
| XM_017023133.1 |
765 |
Missense Mutation |
AAG,GAG |
K129E |
XP_016878622.1 |
| XM_017023134.1 |
765 |
Missense Mutation |
AAG,GAG |
K129E |
XP_016878623.1 |
- Gene
- MIR328
- Gene Name
- microRNA 328
There are no transcripts associated with this gene.
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