Product Details

SNP ID

rs946252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:11294907 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACAAACTTGGACATAAAAATCTGC[C/T]CATAGTTGGTGAAATTAGGGTTTAA

Phenotype

MIM: 300391 MIM: 300118

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AMELX PubMed Links

Gene Details

Gene

AMELX

Gene Name

amelogenin, X-linked

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142.2		Intron			NP_001133.1
NM_182680.1		Intron			NP_872621.1
NM_182681.1		Intron			NP_872622.1
XM_017029404.1		Intron			XP_016884893.1

Gene

ARHGAP6

Gene Name

Rho GTPase activating protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287242.1		Intron			NP_001274171.1
NM_006125.2		Intron			NP_006116.2
NM_013423.2		Intron			NP_038267.1
NM_013427.2		Intron			NP_038286.2

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