Product Details

SNP ID

rs201053291

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45817975 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGGTTACCTGCTTCATGATGAGG[C/T]GGGACAGGATGTTCATGACGAAGCC

Phenotype

MIM: 607548 MIM: 602388

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RSPH6A PubMed Links

Gene Details

Gene

RSPH6A

Gene Name

radial spoke head 6 homolog A

There are no transcripts associated with this gene.

Gene

SYMPK

Gene Name

symplekin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004819.2	3263	Missense Mutation	CAC,CGC	H1022R	NP_004810.2
XM_005259286.1	3263	Missense Mutation	CAC,CGC	H1022R	XP_005259343.1
XM_011527354.1	3263	Missense Mutation	CAC,CGC	H1022R	XP_011525656.1

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