Product Details

SNP ID

rs201067493

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:100085550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTGCTTACCTGAATTACTAAAT[A/C]GGTTCTGGCTGAGTCCGCGTAAAGG

Phenotype

MIM: 609321

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MFSD14A PubMed Links

Gene Details

Gene

MFSD14A

Gene Name

major facilitator superfamily domain containing 14A

There are no transcripts associated with this gene.

Gene

SASS6

Gene Name

SAS-6 centriolar assembly protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304829.1	2054	Missense Mutation	CGA,CTA	R451L	NP_001291758.1
NM_194292.2	2054	Missense Mutation	CGA,CTA	R618L	NP_919268.1
XM_017000486.1	2054	Missense Mutation	CGA,CTA	R591L	XP_016855975.1

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