Product Details

SNP ID: rs147647748
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:44114821 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCCCAGGCCTCCCAGGTCATCGTC[C/G]TCTGCCCCGAAGCCCGAGAAGCTGA
Phenotype: MIM: 602981 MIM: 600815
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: AEBP1 PubMed Links

Gene Details

Gene: AEBP1
Gene Name: AE binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001129.4	2024	Intron			NP_001120.3
XM_011515162.1	2024	Intron			XP_011513464.1

Gene: MIR4649
Gene Name: microRNA 4649

There are no transcripts associated with this gene.

Gene: POLD2
Gene Name: DAN polymerase delta 2, accessory subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127218.2	2024	Missense Mutation	GAC,GAG	D458E	NP_001120690.1
NM_001256879.1	2024	Missense Mutation	GAC,GAG	D458E	NP_001243808.1
NM_006230.3	2024	Missense Mutation	GAC,GAG	D493E	NP_006221.2
XM_011515431.1	2024	Missense Mutation	GAC,GAG	D491E	XP_011513733.1

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