Product Details

SNP ID

rs3733319

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.4:127921606 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TGGATAGCCTAATCCTATTAGCACA[A/G]CTGATGTAAGGAACTGGGCCAGATG

Phenotype

MIM: 611124

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MFSD8 PubMed Links

Gene Details

Gene

MFSD8

Gene Name

major facilitator superfamily domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152778.2	1241	Missense Mutation	GCT,GTT	A423V	NP_689991.1
XM_005262893.1	1241	Missense Mutation	GCT,GTT	A423V	XP_005262950.1
XM_005262896.1	1241	Missense Mutation	GCT,GTT	A374V	XP_005262953.1
XM_005262897.2	1241	Missense Mutation	GCT,GTT	A356V	XP_005262954.1
XM_005262898.2	1241	UTR 3			XP_005262955.1
XM_011531830.1	1241	Missense Mutation	GCT,GTT	A385V	XP_011530132.1
XM_011531831.1	1241	Missense Mutation	GCT,GTT	A318V	XP_011530133.1
XM_011531832.1	1241	UTR 3			XP_011530134.1
XM_017007989.1	1241	UTR 3			XP_016863478.1

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