Product Details

SNP ID

rs138116973

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:69079233 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTCTCCAGTGTGCACTGAGAAA[A/G]GCTGTATTCTTCCAGGTTAAAGTTA

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	5216	Missense Mutation	CTT,TTT	L1577F	NP_525023.2
XM_011524574.2	5216	Missense Mutation	CTT,TTT	L1260F	XP_011522876.1
XM_017024404.1	5216	Missense Mutation	CTT,TTT	L1577F	XP_016879893.1
XM_017024405.1	5216	Missense Mutation	CTT,TTT	L1577F	XP_016879894.1
XM_017024406.1	5216	Missense Mutation	CTT,TTT	L1382F	XP_016879895.1
XM_017024407.1	5216	Missense Mutation	CTT,TTT	L1382F	XP_016879896.1
XM_017024408.1	5216	Missense Mutation	CTT,TTT	L892F	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	5216	Intron			NP_525022.2
XM_017024011.1	5216	Intron			XP_016879500.1
XM_017024012.1	5216	Intron			XP_016879501.1
XM_017024013.1	5216	Intron			XP_016879502.1
XM_017024014.1	5216	Intron			XP_016879503.1
XM_017024015.1	5216	Intron			XP_016879504.1

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