Product Details

SNP ID
rs202076235
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:57320468 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTTTTTTTTAGTGTTAAAATCA[C/G]TTGAAAATCTTGGAGTGAGCTATGT
Phenotype
MIM: 176636
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PRIM2 PubMed Links

Gene Details

Gene
PRIM2
Gene Name
primase (DNA) subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000947.4 260 Missense Mutation CTT,GTT L56V NP_000938.2
NM_001282487.1 260 Missense Mutation CTT,GTT L56V NP_001269416.1
NM_001282488.1 260 Missense Mutation CTT,GTT L56V NP_001269417.1
XM_011514731.2 260 Intron XP_011513033.1
XM_017011004.1 260 Missense Mutation CTT,GTT L56V XP_016866493.1
XM_017011005.1 260 Missense Mutation CTT,GTT L56V XP_016866494.1
XM_017011006.1 260 Missense Mutation CTT,GTT L56V XP_016866495.1
XM_017011007.1 260 UTR 5 XP_016866496.1

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