Product Details

SNP ID

rs140142327

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1041931 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACCTGCTTTCCGCAGCTGACACC[A/G]GGCGAGGAGCCCGGGCGCCTGAGCA

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019112.3	479	Silent Mutation	CCA,CCG	P87P	NP_061985.2
XM_006722616.1	479	Silent Mutation	CCA,CCG	P87P	XP_006722679.1
XM_006722617.2	479	Silent Mutation	CCA,CCG	P87P	XP_006722680.1
XM_006722618.2	479	Intron			XP_006722681.1
XM_011527628.2	479	Silent Mutation	CCA,CCG	P87P	XP_011525930.1
XM_011527629.1	479	Silent Mutation	CCA,CCG	P87P	XP_011525931.1
XM_011527630.1	479	Silent Mutation	CCA,CCG	P87P	XP_011525932.1
XM_011527631.1	479	Silent Mutation	CCA,CCG	P87P	XP_011525933.1
XM_011527632.1	479	Intron			XP_011525934.1
XM_011527633.2	479	Silent Mutation	CCA,CCG	P87P	XP_011525935.1
XM_011527634.1	479	Silent Mutation	CCA,CCG	P87P	XP_011525936.1
XM_011527635.1	479	Silent Mutation	CCA,CCG	P87P	XP_011525937.1
XM_011527636.2	479	Intron			XP_011525938.1
XM_017026142.1	479	Silent Mutation	CCA,CCG	P87P	XP_016881631.1
XM_017026143.1	479	Silent Mutation	CCA,CCG	P87P	XP_016881632.1

Gene

CNN2

Gene Name

calponin 2

There are no transcripts associated with this gene.

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