Product Details

SNP ID

rs144910024

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1042781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTGGCACTGGGCCAAGCCCAGGA[G/T]CCCTTGCACAGCTTGTTGGAGGCCG

Phenotype

MIM: 605414 MIM: 602373

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ABCA7 PubMed Links

Gene Details

Gene

ABCA7

Gene Name

ATP binding cassette subfamily A member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019112.3	752	Silent Mutation	GAG,GAT	E178D	NP_061985.2
XM_006722616.1	752	Silent Mutation	GAG,GAT	E178D	XP_006722679.1
XM_006722617.2	752	Silent Mutation	GAG,GAT	E178D	XP_006722680.1
XM_006722618.2	752	Intron			XP_006722681.1
XM_011527628.2	752	Silent Mutation	GAG,GAT	E178D	XP_011525930.1
XM_011527629.1	752	Missense Mutation	GAG,GAT	E178D	XP_011525931.1
XM_011527630.1	752	Silent Mutation	GAG,GAT	E178D	XP_011525932.1
XM_011527631.1	752	Silent Mutation	GAG,GAT	E178D	XP_011525933.1
XM_011527632.1	752	Silent Mutation	GAG,GAT	E26D	XP_011525934.1
XM_011527633.2	752	Silent Mutation	GAG,GAT	E178D	XP_011525935.1
XM_011527634.1	752	Silent Mutation	GAG,GAT	E178D	XP_011525936.1
XM_011527635.1	752	Silent Mutation	GAG,GAT	E178D	XP_011525937.1
XM_011527636.2	752	Intron			XP_011525938.1
XM_017026142.1	752	Silent Mutation	GAG,GAT	E178D	XP_016881631.1
XM_017026143.1	752	Silent Mutation	GAG,GAT	E178D	XP_016881632.1

Gene

CNN2

Gene Name

calponin 2

There are no transcripts associated with this gene.

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