Product Details

SNP ID

rs149371591

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:68868099 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTGGGGTTTTAAGGCTCTTCCT[A/G]GGGGAGGAGCTTCCACTTCACTGAG

Phenotype

MIM: 612505

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCA8 PubMed Links

Gene Details

Gene

ABCA8

Gene Name

ATP binding cassette subfamily A member 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288985.1	4964	Nonsense Mutation	CAG,TAG	Q1618*	NP_001275914.1
NM_001288986.1	4964	Nonsense Mutation	CAG,TAG	Q1613*	NP_001275915.1
NM_007168.3	4964	Nonsense Mutation	CAG,TAG	Q1578*	NP_009099.1
XM_005256938.2	4964	Nonsense Mutation	CAG,TAG	Q1618*	XP_005256995.1
XM_005256940.4	4964	Nonsense Mutation	CAG,TAG	Q1557*	XP_005256997.1
XM_011524191.2	4964	Intron			XP_011522493.1
XM_011524192.2	4964	Intron			XP_011522494.1

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