Product Details

SNP ID

rs193922097

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153725687 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCTGCTGCAGTGGCTCCTCATC[A/G]CCCTCCCTGCTACCTTCGTCAACAG

Phenotype

MIM: 300371 MIM: 300398

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCD1 PubMed Links

Gene Details

Gene

ABCD1

Gene Name

ATP binding cassette subfamily D member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000033.3	820	Missense Mutation	ACC,GCC	T141A	NP_000024.2

Gene

BCAP31

Gene Name

B-cell receptor-associated protein 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001139441.1	820	Intron			NP_001132913.1
NM_001139457.2	820	Intron			NP_001132929.1
NM_001256447.1	820	Intron			NP_001243376.1
NM_005745.7	820	Intron			NP_005736.3

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