Product Details

SNP ID

rs45542334

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136440363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGATCCAGCGGGACACGCCTGTG[A/G]AACATTTTGGAAAACATCCTGGGTG

Phenotype

MIM: 613037 MIM: 612854

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

INPP5E PubMed Links

Gene Details

Gene

INPP5E

Gene Name

inositol polyphosphate-5-phosphatase E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318502.1	8620	Intron			NP_001305431.1
NM_019892.5	8620	Intron			NP_063945.2
XM_017014926.1	8620	Intron			XP_016870415.1

Gene

SEC16A

Gene Name

SEC16 homolog A, endoplasmic reticulum export factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276418.1	8620	UTR 3			NP_001263347.1
NM_014866.1	8620	UTR 3			NP_055681.1
XM_005266134.2	8620	UTR 3			XP_005266191.1
XM_011519246.2	8620	UTR 3			XP_011517548.1
XM_011519247.1	8620	UTR 3			XP_011517549.1
XM_011519248.2	8620	UTR 3			XP_011517550.1
XM_011519249.1	8620	UTR 3			XP_011517551.1
XM_011519250.2	8620	Intron			XP_011517552.1
XM_011519251.1	8620	UTR 3			XP_011517553.1
XM_011519252.2	8620	UTR 3			XP_011517554.1
XM_011519253.1	8620	UTR 3			XP_011517555.1
XM_011519254.1	8620	UTR 3			XP_011517556.1
XM_011519255.2	8620	UTR 3			XP_011517557.1
XM_011519256.1	8620	UTR 3			XP_011517558.1
XM_011519257.1	8620	UTR 3			XP_011517559.1
XM_011519258.1	8620	UTR 3			XP_011517560.1
XM_011519259.1	8620	UTR 3			XP_011517561.1
XM_011519260.2	8620	UTR 3			XP_011517562.1
XM_011519261.1	8620	UTR 3			XP_011517563.1
XM_011519262.1	8620	UTR 3			XP_011517564.1
XM_011519263.2	8620	UTR 3			XP_011517565.1
XM_011519264.2	8620	Intron			XP_011517566.1
XM_017015363.1	8620	UTR 3			XP_016870852.1
XM_017015364.1	8620	Intron			XP_016870853.1

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