Product Details

SNP ID

rs75743030

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:157323109 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCTATTATGGAGGAAAAACATA[C/T]TCCATCAAACAGGAAAGGATTCATT

Phenotype

MIM: 610072 MIM: 615129

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ERMN PubMed Links

Gene Details

Gene

ERMN

Gene Name

ermin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009959.2		Intron			NP_001009959.1
NM_001304344.1		Intron			NP_001291273.1
NM_001304345.1		Intron			NP_001291274.1
NM_001304346.1		Intron			NP_001291275.1
NM_020711.2		Intron			NP_065762.1

Gene

GALNT5

Gene Name

polypeptide N-acetylgalactosaminyltransferase 5

There are no transcripts associated with this gene.

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