SNP Links for Nucleotide (Select 1314818005) - SNP - NCBI

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Links from Nucleotide

Items: 2

Select item 14914326811.

rs1491432681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 8:66921953 (GRCh38)
8:67834189 (GRCh37)
Canonical SPDI:: NC_000008.11:66921953:TTATT:TTATTATT
Gene:: MCMDC2 (Varview), SNHG6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTATTATT=0.000071/1 (ALFA)
TTA=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.66921956_66921958dup, NC_000008.10:g.67834191_67834193dup, NM_173518.5:c.*2787_*2789dup, NM_173518.4:c.*2787_*2789dup, XM_006716427.4:c.*2787_*2789dup, XM_006716427.3:c.*2787_*2789dup, XM_006716429.3:c.*2787_*2789dup, XM_006716429.2:c.*2787_*2789dup, XM_005251174.3:c.*2787_*2789dup, XM_005251174.2:c.*2787_*2789dup, XM_011517468.3:c.*2787_*2789dup, XM_011517468.2:c.*2787_*2789dup, NR_002599.2:n.445_447dup, NR_002599.1:n.446_448dup, NR_152600.1:n.438_440dup, NR_152598.1:n.376_378dup, NR_152599.1:n.333_335dup

Select item 14913011082.

rs1491301108 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:66921954 (GRCh38)
8:67834189 (GRCh37)
Canonical SPDI:: NC_000008.11:66921952:TTT:T
Gene:: MCMDC2 (Varview), SNHG6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.66921954_66921955del, NC_000008.10:g.67834189_67834190del, NM_173518.5:c.*2785_*2786del, NM_173518.4:c.*2785_*2786del, XM_006716427.4:c.*2785_*2786del, XM_006716427.3:c.*2785_*2786del, XM_006716429.3:c.*2785_*2786del, XM_006716429.2:c.*2785_*2786del, XM_005251174.3:c.*2785_*2786del, XM_005251174.2:c.*2785_*2786del, XM_011517468.3:c.*2785_*2786del, XM_011517468.2:c.*2785_*2786del, NR_002599.2:n.447_448del, NR_002599.1:n.448_449del, NR_152600.1:n.440_441del, NR_152598.1:n.378_379del, NR_152599.1:n.335_336del

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