Product Details

SNP ID

rs4988283

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:135840885 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTAACTACCAAGTAGGGATCTTCTT[C/T]ATAGCTCTCACTTCCCTCTGTGGAG

Phenotype

MIM: 603202 MIM: 601806

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LCT PubMed Links

Gene Details

Gene

LCT

Gene Name

lactase

There are no transcripts associated with this gene.

Gene

MCM6

Gene Name

minichromosome maintenance complex component 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005915.5	2528	Missense Mutation	AAA,GAA	K806E	NP_005906.2

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