Product Details

SNP ID
rs182446913
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:74856926 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGCTTGCCGGGCAGATTTTTCCA[C/T]TTGGATGTAATAAAACTCACGAAAG
Phenotype
MIM: 615094
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PROX2 PubMed Links

Gene Details

Gene
PROX2
Gene Name
prospero homeobox 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080408.2 2561 Missense Mutation ATG,GTG M268V NP_001073877.2
NM_001243007.1 2561 Missense Mutation ATG,GTG M495V NP_001229936.1
XM_005267543.3 2561 Missense Mutation ATG,GTG M495V XP_005267600.1
XM_017021222.1 2561 Intron XP_016876711.1

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