Product Details

SNP ID

rs1804616

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45815637 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTCTTCATAGCATCTTCTCCAA[C/G]AGGTGCGAGGGTCTGGGGGCTCCGC

Phenotype

MIM: 607548 MIM: 602388

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RSPH6A PubMed Links

Gene Details

Gene

RSPH6A

Gene Name

radial spoke head 6 homolog A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030785.3	3946	Intron			NP_110412.1
XM_011527351.1	3946	Intron			XP_011525653.1

Gene

SYMPK

Gene Name

symplekin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004819.2	3946	Missense Mutation	CTT,GTT	L1250V	NP_004810.2
XM_005259286.1	3946	Missense Mutation	CTT,GTT	L1250V	XP_005259343.1
XM_011527354.1	3946	Missense Mutation	CTT,GTT	L1250V	XP_011525656.1

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