Product Details
- SNP ID
-
rs184985434
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:2854082 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCTGAAGAGACCTGAGCTCGGGCT[C/T]ACCCTCACCAAGCTTCACTGTTGGA
- Phenotype
-
MIM: 300198
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GYG2
PubMed Links
Gene Details
- Gene
- GYG2
- Gene Name
- glycogenin 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001079855.1 |
627 |
Silent Mutation |
CTC,CTT |
L84L |
NP_001073324.1 |
| NM_001184702.1 |
627 |
Silent Mutation |
CTC,CTT |
L84L |
NP_001171631.1 |
| NM_001184703.1 |
627 |
Silent Mutation |
CTC,CTT |
L115L |
NP_001171632.1 |
| NM_001184704.1 |
627 |
UTR 5 |
|
|
NP_001171633.1 |
| NM_003918.2 |
627 |
Silent Mutation |
CTC,CTT |
L115L |
NP_003909.2 |
| XM_011545600.2 |
627 |
Silent Mutation |
CTC,CTT |
L84L |
XP_011543902.1 |
| XM_017029927.1 |
627 |
Silent Mutation |
CTC,CTT |
L115L |
XP_016885416.1 |
| XM_017029928.1 |
627 |
Silent Mutation |
CTC,CTT |
L115L |
XP_016885417.1 |
| XM_017029929.1 |
627 |
Silent Mutation |
CTC,CTT |
L115L |
XP_016885418.1 |
| XM_017029930.1 |
627 |
Silent Mutation |
CTC,CTT |
L84L |
XP_016885419.1 |
| XM_017029931.1 |
627 |
Silent Mutation |
CTC,CTT |
L84L |
XP_016885420.1 |
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