Product Details

SNP ID

rs624307

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65376604 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCATCTGCATCCGGGACTTGATCA[T/C]GTCTAAGGGCGTGGCTGCCACCCAG

Phenotype

MIM: 610825

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

FRMD8 PubMed Links

Gene Details

Gene

FRMD8

Gene Name

FERM domain containing 8

There are no transcripts associated with this gene.

Gene

SLC25A45

Gene Name

solute carrier family 25 member 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077241.2	1679	Missense Mutation	ATG,GTG	M182V	NP_001070709.2
NM_001278250.2	1679	Missense Mutation	ATG,GTG	M200V	NP_001265179.2
NM_001278251.2	1679	Missense Mutation	ATG,GTG	M182V	NP_001265180.2
NM_001300820.1	1679	Missense Mutation	ATG,GTG	M162V	NP_001287749.1
NM_182556.3	1679	Missense Mutation	ATG,GTG	M224V	NP_872362.3
XM_006718509.3	1679	Missense Mutation	ATG,GTG	M182V	XP_006718572.1
XM_006718510.3	1679	Missense Mutation	ATG,GTG	M182V	XP_006718573.1
XM_011544943.2	1679	Missense Mutation	ATG,GTG	M182V	XP_011543245.1
XM_011544944.2	1679	Missense Mutation	ATG,GTG	M182V	XP_011543246.1
XM_011544947.2	1679	Missense Mutation	ATG,GTG	M224V	XP_011543249.1
XM_011544949.2	1679	Missense Mutation	ATG,GTG	M182V	XP_011543251.1
XM_017017562.1	1679	Missense Mutation	ATG,GTG	M224V	XP_016873051.1
XM_017017563.1	1679	Missense Mutation	ATG,GTG	M182V	XP_016873052.1
XM_017017564.1	1679	Missense Mutation	ATG,GTG	M182V	XP_016873053.1
XM_017017565.1	1679	Missense Mutation	ATG,GTG	M182V	XP_016873054.1
XM_017017566.1	1679	Missense Mutation	ATG,GTG	M182V	XP_016873055.1
XM_017017567.1	1679	Missense Mutation	ATG,GTG	M182V	XP_016873056.1
XM_017017568.1	1679	Missense Mutation	ATG,GTG	M182V	XP_016873057.1
XM_017017569.1	1679	Missense Mutation	ATG,GTG	M182V	XP_016873058.1
XM_017017570.1	1679	Missense Mutation	ATG,GTG	M120V	XP_016873059.1
XM_017017571.1	1679	Missense Mutation	ATG,GTG	M120V	XP_016873060.1

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