Product Details

SNP ID

rs1078399

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:112791916 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGAGAGAGAGAGACTCACAGAGC[G/T]AAAACCTTCATCCATGTGGAGGACA

Phenotype

MIM: 612159

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

RPH3A PubMed Links

Gene Details

Gene

RPH3A

Gene Name

rabphilin 3A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143854.1	173	UTR 5			NP_001137326.1
NM_014954.3	173	UTR 5			NP_055769.2
XM_011538048.1	173	Intron			XP_011536350.1
XM_017019034.1	173	Intron			XP_016874523.1

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