Product Details

SNP ID

rs12094303

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:32368341 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTTCCCACCACCTGTCACCTCA[A/G]ACAGGAGCAGGGACCCTCCTGAGGG

Phenotype

MIM: 607660

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BSDC1 PubMed Links

Gene Details

Gene

BSDC1

Gene Name

BSD domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143888.2	1393	Intron			NP_001137360.1
NM_001143889.2	1393	Intron			NP_001137361.1
NM_001143890.2	1393	Intron			NP_001137362.1
NM_001300958.1	1393	Silent Mutation	CTG,TTG	L473L	NP_001287887.1
NM_018045.7	1393	Intron			NP_060515.3
XM_005270986.4	1393	Silent Mutation	CTG,TTG	L456L	XP_005271043.1
XM_011541677.2	1393	Silent Mutation	CTG,TTG	L461L	XP_011539979.1

Gene

FAM229A

Gene Name

family with sequence similarity 229 member A

There are no transcripts associated with this gene.

Gene

TSSK3

Gene Name

testis specific serine kinase 3

There are no transcripts associated with this gene.

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