Product Details

SNP ID

rs145490715

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:69079220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCACTTGACTTACCTTCTCCAGT[A/G]TGCACTGAGAAAGGCTGTATTCTTC

Phenotype

MIM: 612504 MIM: 612507

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCA6 PubMed Links

Gene Details

Gene

ABCA6

Gene Name

ATP binding cassette subfamily A member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080284.2	5229	Missense Mutation	ACA,ATA	T1581I	NP_525023.2
XM_011524574.2	5229	Missense Mutation	ACA,ATA	T1264I	XP_011522876.1
XM_017024404.1	5229	Missense Mutation	ACA,ATA	T1581I	XP_016879893.1
XM_017024405.1	5229	Missense Mutation	ACA,ATA	T1581I	XP_016879894.1
XM_017024406.1	5229	Missense Mutation	ACA,ATA	T1386I	XP_016879895.1
XM_017024407.1	5229	Missense Mutation	ACA,ATA	T1386I	XP_016879896.1
XM_017024408.1	5229	Missense Mutation	ACA,ATA	T896I	XP_016879897.1

Gene

ABCA9

Gene Name

ATP binding cassette subfamily A member 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080283.3	5229	Intron			NP_525022.2
XM_017024011.1	5229	Intron			XP_016879500.1
XM_017024012.1	5229	Intron			XP_016879501.1
XM_017024013.1	5229	Intron			XP_016879502.1
XM_017024014.1	5229	Intron			XP_016879503.1
XM_017024015.1	5229	Intron			XP_016879504.1

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