Product Details

SNP ID

rs113295055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53328578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGCTGTGGATGGGCTTCTTCCG[C/T]AGCCCAGCCGCTGCTGCTCCCAGCC

Phenotype

MIM: 605378 MIM: 606633

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AAAS PubMed Links

Gene Details

Gene

AAAS

Gene Name

aladin WD repeat nucleoporin

There are no transcripts associated with this gene.

Gene

SP7

Gene Name

Sp7 transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173467.2	1187	Silent Mutation	CTA,CTG	L288L	NP_001166938.1
NM_001300837.1	1187	Silent Mutation	CTA,CTG	L270L	NP_001287766.1
NM_152860.1	1187	Silent Mutation	CTA,CTG	L288L	NP_690599.1
XM_011537900.2	1187	Silent Mutation	CTA,CTG	L270L	XP_011536202.1

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