Product Details

SNP ID

rs151054304

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1042354 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAAGCAGTCTCCACTGGAACCAC[C/T]CATGCTGGATGTCGCGGAGCTGCTG

Phenotype

MIM: 605414 MIM: 602373

Polymorphism

C/T, Transition 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	673	Missense Mutation	CCC,CTC	P152L	NP_061985.2
XM_006722616.1	673	Missense Mutation	CCC,CTC	P152L	XP_006722679.1
XM_006722617.2	673	Missense Mutation	CCC,CTC	P152L	XP_006722680.1
XM_006722618.2	673	Intron			XP_006722681.1
XM_011527628.2	673	Missense Mutation	CCC,CTC	P152L	XP_011525930.1
XM_011527629.1	673	Missense Mutation	CCC,CTC	P152L	XP_011525931.1
XM_011527630.1	673	Missense Mutation	CCC,CTC	P152L	XP_011525932.1
XM_011527631.1	673	Missense Mutation	CCC,CTC	P152L	XP_011525933.1
XM_011527632.1	673	UTR 5			XP_011525934.1
XM_011527633.2	673	Missense Mutation	CCC,CTC	P152L	XP_011525935.1
XM_011527634.1	673	Missense Mutation	CCC,CTC	P152L	XP_011525936.1
XM_011527635.1	673	Missense Mutation	CCC,CTC	P152L	XP_011525937.1
XM_011527636.2	673	Intron			XP_011525938.1
XM_017026142.1	673	Missense Mutation	CCC,CTC	P152L	XP_016881631.1
XM_017026143.1	673	Missense Mutation	CCC,CTC	P152L	XP_016881632.1

Gene

CNN2

Gene Name

calponin 2

There are no transcripts associated with this gene.

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