Product Details

SNP ID

rs1060453

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:153694382 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCCAGCTGTTTGACTACTACTC[A/G]GCCAGCGGCACCACCCTGCTCTGGC

Phenotype

MIM: 300398 MIM: 300680 MIM: 300036

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BCAP31 PubMed Links

Gene Details

Gene

BCAP31

Gene Name

B-cell receptor-associated protein 31

There are no transcripts associated with this gene.

Gene

PNCK

Gene Name

pregnancy up-regulated nonubiquitous CaM kinase

There are no transcripts associated with this gene.

Gene

SLC6A8

Gene Name

solute carrier family 6 member 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142805.1	1258	Intron			NP_001136277.1
NM_001142806.1	1258	Silent Mutation	TCA,TCG	S362S	NP_001136278.1
NM_005629.3	1258	Intron			NP_005620.1

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