Product Details

SNP ID

rs34377244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65376935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCAGGCTCCTCGGAACAGCCCCC[A/G]GGGCCCCTCCTCCCGGAAGATGGAG

Phenotype

MIM: 610825

Polymorphism

A/G, 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	1490	Missense Mutation	CGG,TGG	R119W	NP_001070709.2
NM_001278250.2	1490	Missense Mutation	CGG,TGG	R137W	NP_001265179.2
NM_001278251.2	1490	Missense Mutation	CGG,TGG	R119W	NP_001265180.2
NM_001300820.1	1490	Missense Mutation	CGG,TGG	R99W	NP_001287749.1
NM_182556.3	1490	Missense Mutation	CGG,TGG	R161W	NP_872362.3
XM_006718509.3	1490	Missense Mutation	CGG,TGG	R119W	XP_006718572.1
XM_006718510.3	1490	Missense Mutation	CGG,TGG	R119W	XP_006718573.1
XM_011544943.2	1490	Missense Mutation	CGG,TGG	R119W	XP_011543245.1
XM_011544944.2	1490	Missense Mutation	CGG,TGG	R119W	XP_011543246.1
XM_011544947.2	1490	Missense Mutation	CGG,TGG	R161W	XP_011543249.1
XM_011544949.2	1490	Missense Mutation	CGG,TGG	R119W	XP_011543251.1
XM_017017562.1	1490	Missense Mutation	CGG,TGG	R161W	XP_016873051.1
XM_017017563.1	1490	Missense Mutation	CGG,TGG	R119W	XP_016873052.1
XM_017017564.1	1490	Missense Mutation	CGG,TGG	R119W	XP_016873053.1
XM_017017565.1	1490	Missense Mutation	CGG,TGG	R119W	XP_016873054.1
XM_017017566.1	1490	Missense Mutation	CGG,TGG	R119W	XP_016873055.1
XM_017017567.1	1490	Missense Mutation	CGG,TGG	R119W	XP_016873056.1
XM_017017568.1	1490	Missense Mutation	CGG,TGG	R119W	XP_016873057.1
XM_017017569.1	1490	Missense Mutation	CGG,TGG	R119W	XP_016873058.1
XM_017017570.1	1490	Missense Mutation	CGG,TGG	R57W	XP_016873059.1
XM_017017571.1	1490	Missense Mutation	CGG,TGG	R57W	XP_016873060.1

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