Product Details

SNP ID

rs62530311

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144040090 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTGCTGTCTGGCCCAGCACCCAC[A/G]TCACAGAGCAGCCCCCTCACCAGCT

Phenotype

MIM: 610874

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SMPD5 PubMed Links

Gene Details

Gene

SMPD5

Gene Name

sphingomyelin phosphodiesterase 5

There are no transcripts associated with this gene.

Gene

SPATC1

Gene Name

spermatogenesis and centriole associated 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134374.1	495	Silent Mutation	ACA,ACG	T131T	NP_001127846.1
NM_198572.2	495	Silent Mutation	ACA,ACG	T131T	NP_940974.2
XM_011517021.1	495	Silent Mutation	ACA,ACG	T131T	XP_011515323.1
XM_011517022.2	495	Silent Mutation	ACA,ACG	T125T	XP_011515324.1
XM_011517023.2	495	Silent Mutation	ACA,ACG	T69T	XP_011515325.1
XM_011517024.2	495	Silent Mutation	ACA,ACG	T40T	XP_011515326.1
XM_011517025.2	495	Silent Mutation	ACA,ACG	T40T	XP_011515327.1
XM_017013399.1	495	Silent Mutation	ACA,ACG	T40T	XP_016868888.1

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