Product Details

SNP ID

rs1048167

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.5:74721674 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AAACATTTAGGTCAAACCACTTCTC[C/T]GGTTGAGCAGTGTATTTTGATCTTG

Phenotype

MIM: 606544 MIM: 606873

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GFM2 PubMed Links

Gene Details

Gene

GFM2

Gene Name

G elongation factor mitochondrial 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281302.1	2673	Missense Mutation			NP_001268231.1
NM_032380.4	2673	Missense Mutation			NP_115756.2
NM_170681.2	2673	Intron			NP_733781.1
NM_170691.2	2673	Missense Mutation			NP_733792.1
XM_011543691.2	2673	Intron			XP_011541993.1
XM_017009986.1	2673	Missense Mutation			XP_016865475.1

Gene

HEXB

Gene Name

hexosaminidase subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000521.3	2673	Intron			NP_000512.1
NM_001292004.1	2673	Intron			NP_001278933.1

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