Product Details

SNP ID
rs144381721
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149032290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTCGTCAGCATTTGGTTTTTTA[A/G]TTCCAAAGGCTCCTGCTGCAAGTTC
Phenotype
MIM: 603942 MIM: 603257
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GYG1 PubMed Links

Gene Details

Gene
GYG1
Gene Name
glycogenin 1
There are no transcripts associated with this gene.

Gene
HLTF
Gene Name
helicase like transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318934.1 3175 Missense Mutation ACT,ATT T986I NP_001305863.1
NM_001318935.1 3175 Missense Mutation ACT,ATT T987I NP_001305864.1
NM_003071.3 3175 Missense Mutation ACT,ATT T987I NP_003062.2
NM_139048.2 3175 Missense Mutation ACT,ATT T987I NP_620636.1
XM_011513091.1 3175 Missense Mutation ACT,ATT T991I XP_011511393.1
XM_011513092.1 3175 Missense Mutation ACT,ATT T991I XP_011511394.1
XM_011513093.1 3175 Missense Mutation ACT,ATT T990I XP_011511395.1
XM_017007078.1 3175 Missense Mutation ACT,ATT T990I XP_016862567.1
XM_017007079.1 3175 Missense Mutation ACT,ATT T986I XP_016862568.1

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