Product Details

SNP ID

rs1062873

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:73640953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACACACAGAAAGAGATCACAGAC[T/G]CCCTACCTTAGAAGAAGGGAGGTGG

Phenotype

MIM: 606716

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

ALMS1P1 PubMed Links

Gene Details

Gene

ALMS1P1

Gene Name

ALMS1, centrosome and basal body associated protein pseudogene 1

There are no transcripts associated with this gene.

Gene

NAT8

Gene Name

N-acetyltransferase 8 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003960.3	843	Missense Mutation	AGT,CGT	S226R	NP_003951.3

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