Product Details

SNP ID
rs78964548
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:35628504 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATTTTCCAGTGGCTATCTACTT[G/T]GAGAAGTTCTACACAAGTTTGAACT
Phenotype
MIM: 610172
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SPEF2 PubMed Links

Gene Details

Gene
SPEF2
Gene Name
sperm flagellar 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024867.3 323 Nonsense Mutation GGA,TGA G35* NP_079143.3
NM_144722.3 323 Nonsense Mutation GGA,TGA G35* NP_653323.1
XM_005248376.3 323 Nonsense Mutation GGA,TGA G35* XP_005248433.1
XM_005248377.3 323 Nonsense Mutation GGA,TGA G35* XP_005248434.1
XM_005248378.3 323 Nonsense Mutation GGA,TGA G35* XP_005248435.1
XM_011514135.2 323 Nonsense Mutation GGA,TGA G35* XP_011512437.1
XM_011514136.2 323 Nonsense Mutation GGA,TGA G35* XP_011512438.1
XM_011514137.2 323 Nonsense Mutation GGA,TGA G35* XP_011512439.1
XM_011514138.2 323 Nonsense Mutation GGA,TGA G35* XP_011512440.1
XM_011514139.2 323 Nonsense Mutation GGA,TGA G35* XP_011512441.1
XM_011514140.2 323 Nonsense Mutation GGA,TGA G35* XP_011512442.1
XM_011514141.2 323 UTR 5 XP_011512443.1
XM_011514142.1 323 Nonsense Mutation GGA,TGA G35* XP_011512444.1
XM_017009880.1 323 Nonsense Mutation GGA,TGA G35* XP_016865369.1
XM_017009881.1 323 UTR 5 XP_016865370.1
XM_017009882.1 323 Nonsense Mutation GGA,TGA G35* XP_016865371.1

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