Product Details

SNP ID

rs9490553

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:122794948 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCCTAACAAACGACATCATATTT[A/G]TACGTCAATTTTTCTACAAGAAGAA

Phenotype

MIM: 610728

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SMPDL3A PubMed Links

Gene Details

Gene

SMPDL3A

Gene Name

sphingomyelin phosphodiesterase acid like 3A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286138.1		Intron			NP_001273067.1
NM_006714.4		Intron			NP_006705.1
XM_005266797.4		Intron			XP_005266854.1
XM_005266798.2		Intron			XP_005266855.1
XM_005266799.2		Intron			XP_005266856.1
XM_005266801.2		Intron			XP_005266858.1
XM_005266802.2		Intron			XP_005266859.1
XM_017010203.1		Intron			XP_016865692.1
XM_017010204.1		Intron			XP_016865693.1

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