Product Details

SNP ID

rs10521527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:110202764 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGCCCAACATGCACTAGGCTATGA[C/T]ACTATGTTTGGAAAACTGGAACAAC

Phenotype

MIM: 300195

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AMMECR1 PubMed Links

Gene Details

Gene

AMMECR1

Gene Name

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025580.1		Intron			NP_001020751.1
NM_001171689.1		Intron			NP_001165160.1
NM_015365.2		Intron			NP_056180.1

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