Product Details
- SNP ID
-
rs147232488
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:7190731 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATCAGAGTCTCTCTCGGGCTGGAA[C/T]CCAGATGTAGGGGCCTGAGAGGTCC
- Phenotype
-
MIM: 602887
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
DLG4
PubMed Links
Gene Details
- Gene
- DLG4
- Gene Name
- discs large MAGUK scaffold protein 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001128827.2 |
2279 |
Missense Mutation |
ATT,GTT |
I715V |
NP_001122299.1 |
NM_001321074.1 |
2279 |
Missense Mutation |
ATT,GTT |
I758V |
NP_001308003.1 |
NM_001321075.1 |
2279 |
Missense Mutation |
ATT,GTT |
I718V |
NP_001308004.1 |
NM_001321076.1 |
2279 |
Missense Mutation |
ATT,GTT |
I658V |
NP_001308005.1 |
NM_001321077.1 |
2279 |
Missense Mutation |
ATT,GTT |
I658V |
NP_001308006.1 |
NM_001365.4 |
2279 |
Missense Mutation |
ATT,GTT |
I761V |
NP_001356.1 |
XM_005256491.1 |
2279 |
Missense Mutation |
ATT,GTT |
I748V |
XP_005256548.1 |
XM_011523698.1 |
2279 |
Missense Mutation |
ATT,GTT |
I791V |
XP_011522000.1 |
XM_011523699.2 |
2279 |
Missense Mutation |
ATT,GTT |
I791V |
XP_011522001.1 |
XM_011523702.1 |
2279 |
Missense Mutation |
ATT,GTT |
I658V |
XP_011522004.1 |
XM_017024288.1 |
2279 |
Missense Mutation |
ATT,GTT |
I696V |
XP_016879777.1 |
XM_017024289.1 |
2279 |
Missense Mutation |
ATT,GTT |
I693V |
XP_016879778.1 |
XM_017024290.1 |
2279 |
Missense Mutation |
ATT,GTT |
I691V |
XP_016879779.1 |
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