Product Details

SNP ID

rs150222936

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144040018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGCTAACCAGCTTGCAGCCCAG[C/T]GCCACACCGGGCTCACTCATGAGCC

Phenotype

MIM: 610874

Polymorphism

C/T, 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	423	Silent Mutation	AGC,AGT	S107S	NP_001127846.1
NM_198572.2	423	Silent Mutation	AGC,AGT	S107S	NP_940974.2
XM_011517021.1	423	Silent Mutation	AGC,AGT	S107S	XP_011515323.1
XM_011517022.2	423	Silent Mutation	AGC,AGT	S101S	XP_011515324.1
XM_011517023.2	423	Silent Mutation	AGC,AGT	S45S	XP_011515325.1
XM_011517024.2	423	Silent Mutation	AGC,AGT	S16S	XP_011515326.1
XM_011517025.2	423	Silent Mutation	AGC,AGT	S16S	XP_011515327.1
XM_017013399.1	423	Silent Mutation	AGC,AGT	S16S	XP_016868888.1

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