Product Details
- SNP ID
-
rs202028605
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.21:36754297 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCTCAGCATGTCGAAGGAGTTGCC[A/G]TCCGGGTGCACAGTCACAACCTCGC
- Phenotype
-
MIM: 609018
MIM: 600892
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
HLCS
PubMed Links
Gene Details
- Gene
- HLCS
- Gene Name
- holocarboxylase synthetase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000411.6 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
NP_000402.3 |
| NM_001242784.1 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
NP_001229713.1 |
| NM_001242785.1 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
NP_001229714.1 |
| XM_005260953.3 |
2446 |
Silent Mutation |
GAC,GAT |
D857D |
XP_005261010.1 |
| XM_005260955.3 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_005261012.1 |
| XM_005260956.3 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_005261013.1 |
| XM_006723994.2 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_006724057.1 |
| XM_006723995.1 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_006724058.1 |
| XM_011529538.1 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_011527840.1 |
| XM_011529539.2 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_011527841.1 |
| XM_011529540.2 |
2446 |
Intron |
|
|
XP_011527842.1 |
| XM_011529541.2 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_011527843.1 |
| XM_017028330.1 |
2446 |
Silent Mutation |
GAC,GAT |
D710D |
XP_016883819.1 |
- Gene
- SIM2
- Gene Name
- single-minded family bHLH transcription factor 2
There are no transcripts associated with this gene.
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