Product Details

SNP ID

rs1500132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:74648471 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACACCTCCAATCCCCTTCTCCAGC[A/C]CAATCTGCAGAAAGAACCATGCAAC

Phenotype

MIM: 605173 MIM: 606873

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ENC1 PubMed Links

Gene Details

Gene

ENC1

Gene Name

ectodermal-neural cortex 1

There are no transcripts associated with this gene.

Gene

HEXB

Gene Name

hexosaminidase subunit beta

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

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