Product Details

SNP ID
rs200936969
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149032278 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGGCTTGTTTCATTTCGTCAGCA[A/T]TTGGTTTTTTAGTTCCAAAGGCTCC
Phenotype
MIM: 603942 MIM: 603257
Polymorphism
A/T, Transversion 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 3187 Missense Mutation AAT,ATT N990I NP_001305863.1
NM_001318935.1 3187 Missense Mutation AAT,ATT N991I NP_001305864.1
NM_003071.3 3187 Missense Mutation AAT,ATT N991I NP_003062.2
NM_139048.2 3187 Missense Mutation AAT,ATT N991I NP_620636.1
XM_011513091.1 3187 Missense Mutation AAT,ATT N995I XP_011511393.1
XM_011513092.1 3187 Missense Mutation AAT,ATT N995I XP_011511394.1
XM_011513093.1 3187 Missense Mutation AAT,ATT N994I XP_011511395.1
XM_017007078.1 3187 Missense Mutation AAT,ATT N994I XP_016862567.1
XM_017007079.1 3187 Missense Mutation AAT,ATT N990I XP_016862568.1

View Full Product Details