Product Details
- SNP ID
-
rs146477892
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:156733415 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTTCATGGCTCTTGGCCTGGGGTT[G/T]ATGGTGAAGAGCATCGAAGGGGATC
- Phenotype
-
MIM: 600339
MIM: 611930
MIM: 611836
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
HDGF
PubMed Links
Gene Details
- Gene
- HDGF
- Gene Name
- hepatoma-derived growth factor
There are no transcripts associated with this gene.
- Gene
- ISG20L2
- Gene Name
- interferon stimulated exonuclease gene 20 like 2
There are no transcripts associated with this gene.
- Gene
- MRPL24
- Gene Name
- mitochondrial ribosomal protein L24
There are no transcripts associated with this gene.
- Gene
- RRNAD1
- Gene Name
- ribosomal RNA adenine dimethylase domain containing 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001142560.1 |
1085 |
Missense Mutation |
TTG,TTT |
L177F |
NP_001136032.1 |
| NM_015997.3 |
1085 |
Missense Mutation |
TTG,TTT |
L177F |
NP_057081.3 |
| XM_005245234.4 |
1085 |
Missense Mutation |
TTG,TTT |
L177F |
XP_005245291.1 |
| XM_005245235.4 |
1085 |
Missense Mutation |
TTG,TTT |
L107F |
XP_005245292.1 |
| XM_005245236.4 |
1085 |
Missense Mutation |
TTG,TTT |
L177F |
XP_005245293.1 |
| XM_005245237.4 |
1085 |
Missense Mutation |
TTG,TTT |
L177F |
XP_005245294.1 |
| XM_011509600.1 |
1085 |
Missense Mutation |
TTG,TTT |
L111F |
XP_011507902.1 |
| XM_017001404.1 |
1085 |
Missense Mutation |
TTG,TTT |
L111F |
XP_016856893.1 |
| XM_017001405.1 |
1085 |
Missense Mutation |
TTG,TTT |
L7F |
XP_016856894.1 |
| XM_017001406.1 |
1085 |
Missense Mutation |
TTG,TTT |
L7F |
XP_016856895.1 |
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