Product Details

SNP ID

rs149597713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8803351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTTTGATTGCTTCCACCTCCTG[C/T]TGCCCATGCAAATTGAGCCACGGTG

Phenotype

MIM: 611462

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MFSD6L PubMed Links

Gene Details

Gene

MFSD6L

Gene Name

major facilitator superfamily domain containing 6 like

There are no transcripts associated with this gene.

Gene

PIK3R6

Gene Name

phosphoinositide-3-kinase regulatory subunit 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010855.3	2009	Silent Mutation	CAA,CAG	Q729Q	NP_001010855.1
NM_001290211.1	2009	Silent Mutation	CAA,CAG	Q593Q	NP_001277140.1
XM_011523677.2	2009	Missense Mutation	ACA,GCA	T690A	XP_011521979.1
XM_011523678.2	2009	Missense Mutation	ACA,GCA	T686A	XP_011521980.1
XM_011523680.2	2009	Missense Mutation	ACA,GCA	T650A	XP_011521982.1
XM_011523681.2	2009	Missense Mutation	ACA,GCA	T611A	XP_011521983.1
XM_011523683.2	2009	Missense Mutation	ACA,GCA	T611A	XP_011521985.1
XM_011523686.2	2009	Missense Mutation	ACA,GCA	T402A	XP_011521988.1
XM_017024228.1	2009	Missense Mutation	ACA,GCA	T691A	XP_016879717.1
XM_017024229.1	2009	Silent Mutation	CAA,CAG	Q729Q	XP_016879718.1
XM_017024230.1	2009	Silent Mutation	CAA,CAG	Q688Q	XP_016879719.1
XM_017024231.1	2009	Missense Mutation	ACA,GCA	T611A	XP_016879720.1

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