Product Details

SNP ID

rs147641225

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:2752456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCTTGGTTGCGAATTGCCAGGAG[A/G]GCCCTGAGGTGAGCTTTCTGCCCCC

Phenotype

MIM: 610522 MIM: 606198

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C5orf38 PubMed Links

Gene Details

Gene

C5orf38

Gene Name

chromosome 5 open reading frame 38

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001294337.1	326	Silent Mutation	AGA,AGG	R64R	NP_001281266.1
NM_001306149.1	326	Silent Mutation	AGA,AGG	R64R	NP_001293078.1
NM_001306150.1	326	Silent Mutation	AGA,AGG	R64R	NP_001293079.1
NM_178569.3	326	Silent Mutation	AGA,AGG	R64R	NP_848664.1
XM_005248256.3	326	Silent Mutation	AGA,AGG	R64R	XP_005248313.1
XM_005248257.3	326	Silent Mutation	AGA,AGG	R64R	XP_005248314.1
XM_011513975.2	326	Silent Mutation	AGA,AGG	R64R	XP_011512277.1
XM_011513977.2	326	Silent Mutation	AGA,AGG	R64R	XP_011512279.1

Gene

IRX2

Gene Name

iroquois homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134222.1	326	Intron			NP_001127694.1
NM_033267.4	326	Intron			NP_150366.1
XM_011513979.2	326	Intron			XP_011512281.1

View Full Product Details