Product Details

SNP ID

rs199704165

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:70810006 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTGAAATTCAAATGAGAACGTG[C/T]CCTGGAAGAGAAAACAGAGGATCCT

Phenotype

MIM: 610812 MIM: 604632

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HYDIN PubMed Links

Gene Details

Gene

HYDIN

Gene Name

HYDIN, axonemal central pair apparatus protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198542.1	14873	Intron			NP_001185471.1
NM_001198543.1	14873	Intron			NP_001185472.1
NM_001270974.2	14873	Missense Mutation	GAC,GGC	D4887G	NP_001257903.1
NM_017558.4	14873	Intron			NP_060028.2
XM_006721206.2	14873	Missense Mutation	GAC,GGC	D4904G	XP_006721269.1
XM_011523146.2	14873	Missense Mutation	GAC,GGC	D4948G	XP_011521448.1
XM_011523147.1	14873	Missense Mutation	GAC,GGC	D4938G	XP_011521449.1
XM_011523148.1	14873	Missense Mutation	GAC,GGC	D4921G	XP_011521450.1
XM_011523151.1	14873	Missense Mutation	GAC,GGC	D4914G	XP_011521453.1
XM_011523152.1	14873	Missense Mutation	GAC,GGC	D2841G	XP_011521454.1
XM_011523155.2	14873	Missense Mutation	GAC,GGC	D2517G	XP_011521457.1
XM_017023346.1	14873	Missense Mutation	GAC,GGC	D4927G	XP_016878835.1
XM_017023347.1	14873	Missense Mutation	GAC,GGC	D4291G	XP_016878836.1
XM_017023348.1	14873	Missense Mutation	GAC,GGC	D4291G	XP_016878837.1

Gene

VAC14

Gene Name

Vac14, PIKFYVE complex component

There are no transcripts associated with this gene.

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