Product Details

SNP ID
rs200888156
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1032447 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAAGATCAACCGCTCCATGCAG[A/G]ACTGGCACCAGGTGAGGGGCTGGTG
Phenotype
MIM: 605414 MIM: 602373
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ABCA7 PubMed Links

Gene Details

Gene
ABCA7
Gene Name
ATP binding cassette subfamily A member 7
There are no transcripts associated with this gene.

Gene
CNN2
Gene Name
calponin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303499.1 628 Missense Mutation AAC,GAC N81D NP_001290428.1
NM_001303501.1 628 Missense Mutation AAC,GAC N81D NP_001290430.1
NM_004368.3 628 Missense Mutation AAC,GAC N81D NP_004359.1
NM_201277.2 628 Missense Mutation AAC,GAC N81D NP_958434.1

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