Product Details

SNP ID

rs104894737

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:11294790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTACATTTCAGAACCATCAAGAAA[C/T]GGGGACCTGGATTTTATTTGCCTGC

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	1171	Missense Mutation	ACG,ATG	T1M	NP_001133.1
NM_182680.1	1171	Missense Mutation	ACG,ATG	T1M	NP_872621.1
NM_182681.1	1171	Missense Mutation	ACG,ATG	T1M	NP_872622.1
XM_017029404.1	1171	Missense Mutation	ACG,ATG	T1M	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	1171	Intron			NP_001274171.1
NM_006125.2	1171	Intron			NP_006116.2
NM_013423.2	1171	Intron			NP_038267.1
NM_013427.2	1171	Intron			NP_038286.2

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