Product Details

SNP ID

rs13424561

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:73641319 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCACCCAGAAGCAGGAGCCACGCT[C/T]ACTCAGGTAGGATTTGGTAATGTCA

Phenotype

MIM: 606716

Polymorphism

C/T, Transition 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	477	Missense Mutation	AAG,GAG	K104E	NP_003951.3

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